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PKU
MCID: PHN003
MIFTS: 73

Phenylketonuria (PKU)

Categories: Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Phenylketonuria

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MalaCards integrated aliases for Phenylketonuria:

Name: Phenylketonuria 57 38 12 76 53 25 59 75 37 29 13 6 43 15 40
Phenylalanine Hydroxylase Deficiency 57 76 24 53 25 59
Pku 57 12 53 25 59 75
Pah Deficiency 57 24 25 59
Folling Disease 57 53 25
Oligophrenia Phenylpyruvica 57 53
Phenylketonuria, Maternal 44 73
Maternal Phenylketonuria 12 59
Phenylalaninemia 12 76
Phenylketonurias 44 73
Deficiency Disease, Phenylalanine Hydroxylase 25
Phenylalanine Hydroxylase Deficiency Disease 25
Non-Phenylketonuria Hyperphenylalaninemia 75
Hyperphenylalaninemia, Non-Pku Mild 57
Hyperphenylalaninemic Embryopathy 59
Maternal Hyperphenylalaninemia 59
Phenylketonuric Embryopathy 59
Phenylalanine Hydroxylase 13
Classical Phenylketonuria 73
Phenylketonuria Maternal 55
Hyperphenylalaninaemia 73
Hyperphenylalaninemia 75
Folling's Disease 25
Maternal Pku 59
Non-Pku Hpa 75
Hpa 75

Characteristics:

Orphanet epidemiological data:

59
phenylketonuria
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (France),1-5/10000 (Ireland),1-9/1000000 (Finland),1-5/10000 (Turkey); Age of onset: Infancy; Age of death: normal life expectancy;
maternal phenylketonuria
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
occurs in about 1 in 10,000 births
mousy odor


HPO:

32
phenylketonuria:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Teratologic disorders


Sources

Summaries for Phenylketonuria

About this section
NIH Rare Diseases : 53 Phenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of phenylalanine. Phenylalanine is one of the building blocks (amino acids) of proteins. Humans cannot make phenyalanine, but it is a natural part of the foods we eat. However, people do not need all the phenyalanine they eat, so the body converts extra phenylalanine to another harmless amino acid, tyrosine. People with PKU cannot properly break down the extra phenylalanine to convert it to tyrosine. This means phenylalanine builds up in the person's blood, urine, and body. If PKU is not treated, phenylalanine can build up to harmful levels in the body. PKU varies from mild to severe. The most severe form is known as classic PKU. Without treatment, children with classic PKU develop permanent intellectual disability. Light skin and hair, seizures, developmental delays, behavioral problems, and psychiatric disorders are also common. Less severe forms, sometimes called "mild PKU", "variant PKU" and "non-PKU hyperphenylalaninemia", have a smaller risk of brain damage. Mothers who have PKU and no longer follow a phenylalanine-restricted diet have an increased risk of having children with an intellectual disability, because their children may be exposed to very high levels of phenylalanine before birth. In most cases, PKU is caused by changes (pathogenic variants, also called mutations ) in the PAH gene. Inheritance is autosomal recessive manner. Because PKU can be detected by a simple blood test and is treatable, PKU is part of newborn screening. Treatment for PKU normally involves a phenyalanine-restricted diet that is monitored carefully. Some children and adults with PKU may be helped by the medication sapropterin in combination with a low-phenylalanine diet. Adults with high phenylalanine levels despite treatment may be helped by the medication pegvaliase.

MalaCards based summary : Phenylketonuria, also known as phenylalanine hydroxylase deficiency, is related to classic phenylketonuria and dystonia, dopa-responsive, due to sepiapterin reductase deficiency, and has symptoms including seizures, tremor and dry skin. An important gene associated with Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways/superpathways are Phenylalanine, tyrosine and tryptophan biosynthesis and Folate biosynthesis. The drugs Verapamil and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include Liver, brain and testes, and related phenotypes are aminoaciduria and intellectual disability, severe

Disease Ontology : 12 An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.

Genetics Home Reference : 25 Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.

OMIM : 57 Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH; 612349), an enzyme that catalyzes the hydroxylation of phenylalanine to tyrosine, the rate-limiting step in phenylalanine catabolism. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia (Zurfluh et al., 2008). See Scriver (2007) and Blau et al. (2010) for detailed reviews of PKU. (261600)

MedlinePlus : 43 Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early. The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals you can't get from their food. Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important to stay on the diet for the rest of your life. NIH: National Institute of Child Health and Human Development

UniProtKB/Swiss-Prot : 75 Hyperphenylalaninemia: Mildest form of phenylalanine hydroxylase deficiency. Non-phenylketonuria hyperphenylalaninemia: Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. Phenylketonuria: Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor.

Wikipedia : 76 Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino... more...

GeneReviews: NBK1504
Sources

Related Diseases for Phenylketonuria

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Diseases related to Phenylketonuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 236)
# Related Disease Score Top Affiliating Genes
1 classic phenylketonuria 33.8 PAH PTS QDPR
2 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 32.5 GCH1 QDPR
3 hyperphenylalaninemia, bh4-deficient, b 32.5 GCH1 PTS QDPR TH
4 hyperphenylalaninemia 32.0 BGLAP G6PD GCH1 PAH PTS QDPR
5 dystonia, dopa-responsive 31.9 GCH1 TH
6 hyperphenylalaninemia, bh4-deficient, a 31.8 GCH1 PAH PTS QDPR
7 segawa syndrome, autosomal recessive 31.8 GCH1 TH
8 amino acid metabolic disorder 31.4 BTD PAH
9 mild hyperphenylalaninemia 30.5 PAH PTS QDPR
10 maple syrup urine disease 29.9 BTD HADHA OTC QDPR
11 keratomalacia 29.8 PAH QDPR TTR
12 tetrahydrobiopterin deficiency 29.7 GCH1 PAH PTS QDPR TH
13 tyrosinemia 29.7 BTD PAH PTS
14 acyl-coa dehydrogenase, medium-chain, deficiency of 29.2 ACADM BTD HADHA
15 mild phenylketonuria 12.5
16 hyperphenylalaninemia, bh4-deficient, d 12.5
17 hyperphenylalaninemia, mild, non-bh4-deficient 12.4
18 hyperphenylalaninemia due to dehydratase deficiency 12.4
19 hyperphenylalaninemia due to tetrahydrobiopterin deficiency 12.3
20 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 12.1
21 hpa i recognition polymorphism, beta-globin-related 12.1
22 maternal hyperphenylalaninemia 12.0
23 hyperphenylalaninemia, bh4-deficient, c 11.6
24 microcephaly 11.4
25 tyrosine-oxidase temporary deficiency 11.0
26 glycine encephalopathy 11.0
27 spasticity 11.0
28 hypothyroidism 10.4
29 chromophobe renal cell carcinoma 10.3
30 renal oncocytoma 10.3
31 polycystic kidney disease 10.3
32 chronic interstitial cystitis 10.3
33 neonatal hypothyroidism 10.3
34 congenital hypothyroidism 10.3
35 dystonia 10.3
36 autism 10.2
37 hereditary dystonia 10.2 GCH1 TH
38 galactosemia 10.2
39 meningococcal infection 10.2 G6PD TTR
40 pure autonomic failure 10.1 TH TTR
41 dystonia 1, torsion, autosomal dominant 10.1 GCH1 TH
42 dopamine beta-hydroxylase deficiency, congenital 10.1 GCH1 TH
43 mood disorder 10.1
44 histidine metabolism disease 10.1 ADSL QDPR
45 amyotrophic lateral sclerosis 1 10.1
46 intermittent claudication 10.1
47 lateral sclerosis 10.1
48 vitamin b12 deficiency 10.1
49 inherited metabolic disorder 10.1
50 homocystinuria 10.1

Graphical network of the top 20 diseases related to Phenylketonuria:



Diseases related to Phenylketonuria
Sources

Symptoms & Phenotypes for Phenylketonuria

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Metabolic Features:
hyperphenylalaninemia
phenylalanine hydroxylase deficiency
phenylpyruvic acidemia

Skin Nails Hair Hair:
blond hair

Neurologic Central Nervous System:
decreased mental processing speed
mental retardation (if left untreated)
infantile irritability (if left untreated)
peculiar gait (if left untreated)
peculiar stance and sitting posture (if left untreated)
more
Prenatal Manifestations Maternal:
maternal hyperphenylalaninemia teratogenic

Skin Nails Hair Skin:
dry skin
eczema
scleroderma
pale pigmentation

Neurologic Behavioral Psychiatric Manifestations:
depression
obsessive-compulsive disorder
psychosis (if left untreated)
hyperactivity (if left untreated)
autistic features (if left untreated)
more
Head And Neck Eyes:
blue eyes
cataracts

Neurologic Peripheral Nervous System:
defective myelin formation (if left untreated)

Laboratory Abnormalities:
increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine


Clinical features from OMIM:

261600

Human phenotypes related to Phenylketonuria:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
2 intellectual disability, severe 59 32 frequent (33%) Frequent (79-30%) HP:0010864
3 depressivity 32 HP:0000716
4 intellectual disability 32 HP:0001249
5 seizures 32 HP:0001250
6 hyperreflexia 32 HP:0001347
7 cerebral calcification 32 HP:0002514
8 cataract 32 HP:0000518
9 microcephaly 32 HP:0000252
10 irritability 32 HP:0000737
11 malformation of the heart and great vessels 59 Occasional (29-5%)
12 dry skin 32 HP:0000958
13 attention deficit hyperactivity disorder 32 HP:0007018
14 anxiety 32 HP:0000739
15 psychosis 32 HP:0000709
16 blue irides 32 HP:0000635
17 aggressive behavior 32 HP:0000718
18 obsessive-compulsive behavior 32 HP:0000722
19 generalized hypopigmentation 32 HP:0007513
20 eczema 32 HP:0000964
21 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
22 scleroderma 32 HP:0100324
23 self-mutilation 32 HP:0000742
24 fair hair 32 HP:0002286
25 prenatal maternal abnormality 32 HP:0002686
26 hyperphenylalaninemia 32 HP:0004923
27 phenylpyruvic acidemia 32 HP:0004920
28 increased level of hippuric acid in urine 32 HP:0410066
29 reduced phenylalanine hydroxylase activity 32 HP:0005982
30 maternal hyperphenylalaninemia 32 HP:0100610

UMLS symptoms related to Phenylketonuria:


seizures, tremor, dry skin, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness, morning sickness

MGI Mouse Phenotypes related to Phenylketonuria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ACADM BTD G6PD GCH1 HADHA NIPSNAP1
2 cardiovascular system MP:0005385 9.86 ACADM ADSL G6PD GCH1 HADHA PTS
3 mortality/aging MP:0010768 9.65 ACADM ADSL G6PD GCH1 HADHA OTC
4 pigmentation MP:0001186 9.02 ADSL BTD OTC PAH PTS
Sources

Drugs & Therapeutics for Phenylketonuria

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Drugs for Phenylketonuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 52-53-9 2520
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Benzocaine Approved, Investigational Phase 4,Phase 3 94-09-7, 1994-09-7 2337
4 tannic acid Approved Phase 4,Phase 3
5
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
6 phenylalanine Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 calcium channel blockers Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Pharmaceutical Solutions Phase 4,Phase 1,Phase 2
12 Central Nervous System Depressants Phase 4
13 Protective Agents Phase 4
14 Antioxidants Phase 4
15 Neurotransmitter Agents Phase 4
16 Dopamine Agents Phase 4
17 Serotonin Agents Phase 4
18
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
19 Dextrans Phase 3
20
leucovorin Approved Phase 2 58-05-9 6006 143
21
Nitric Oxide Approved Phase 2 10102-43-9 145068
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
23 Vitamins Phase 2,Not Applicable
24 Micronutrients Phase 2,Not Applicable
25 Trace Elements Phase 2,Not Applicable
26 Vitamin B Complex Phase 2
27 Vitamin B9 Phase 2
28 Folate Phase 2
29 Hematinics Phase 2
30 Liver Extracts Phase 1, Phase 2
31
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
32
Polyestradiol phosphate Approved Phase 1 28014-46-2
33
Norgestimate Approved, Investigational Phase 1 35189-28-7 6540478
34 Estradiol valerate Approved, Investigational, Vet_approved Phase 1 979-32-8
35
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
36
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
37 Nucleic Acid Synthesis Inhibitors Phase 1
38 Anti-Bacterial Agents Phase 1
39 Topoisomerase Inhibitors Phase 1
40 Anti-Infective Agents Phase 1,Not Applicable
41 Contraceptives, Oral Phase 1
42 Contraceptive Agents Phase 1
43 Estradiol 17 beta-cypionate Phase 1
44 Fluoroquinolones Phase 1
45 Norgestimate, ethinyl estradiol drug combination Phase 1
46 Contraceptives, Oral, Combined Phase 1
47 Estradiol 3-benzoate Phase 1
48
Coal tar Approved Not Applicable 8007-45-2
49
arachidonic acid Experimental Not Applicable 506-32-1 444899
50 Hormones Not Applicable

Interventional clinical trials:

(show top 50) (show all 88)
# Name Status NCT ID Phase Drugs
1 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4 Kuvan®
2 Effects of Kuvan on Melatonin Secretion Completed NCT01617070 Phase 4 Kuvan
3 The Effectiveness of Kuvan in Amish PKU Patients Recruiting NCT02677870 Phase 4 saproterin dihydrochloride
4 Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Active, not recruiting NCT01965912 Phase 4 Kuvan®
5 Phenylalanine and Its Impact on Cognition Not yet recruiting NCT03788343 Phase 4 Placebo
6 Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria Completed NCT01732471 Phase 3 Kuvan®
7 Kuvan® in Phenylketonuria Patients Less Than 4 Years Old Completed NCT01376908 Phase 3 Kuvan®
8 Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 Completed NCT00332189 Phase 3 sapropterin dihydrochloride
9 Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels Completed NCT00104247 Phase 3 sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin
10 Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients Completed NCT01114737 Phase 3 Sapropterin dihydrochloride;Placebo
11 Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet Completed NCT00272792 Phase 3 Sapropterin Dihydrochloride;Placebo
12 Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU Completed NCT00838435 Phase 3 sapropterin dihydrochloride
13 A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels Completed NCT00225615 Phase 3 sapropterin dihydrochloride
14 An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Completed NCT01819727 Phase 3 BMN 165
15 Study to Evaluate the Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU Active, not recruiting NCT03694353 Phase 3 pegvaliase
16 Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU Active, not recruiting NCT01889862 Phase 3 BMN165 20mg/day;BMN165 40mg/day;Placebo
17 Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety Terminated NCT00432822 Phase 2, Phase 3 tetrahydrobiopterin (BH4)
18 Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003) Unknown status NCT00924703 Phase 2 rAvPAL-PEG
19 Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria Completed NCT00104260 Phase 2 sapropterin dihydrochloride
20 Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU) Completed NCT01212744 Phase 2 rAvPAL-PEG
21 A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks Completed NCT01560286 Phase 2
22 Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU Completed NCT00925054 Phase 2 rAvPAL-PEG
23 Study of BH4, a New and Simple Treatment of Mild PKU Completed NCT00260000 Phase 2 5,6,7,8-tetrahydrobiopterin
24 Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency Completed NCT00355264 Phase 2 Phenoptin
25 Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria Recruiting NCT03516487 Phase 1, Phase 2 SYNB1618;Placebo
26 Neurovascular Transduction During Exercise in Chronic Kidney Disease Recruiting NCT02947750 Phase 2 6R-BH4
27 A Study of CNSA-001 in Primary Tetrahydrobiopterin Deficient Patients With Hyperphenylalaninemia Recruiting NCT03519711 Phase 1, Phase 2 CNSA-001
28 Liver Cell Transplant for Phenylketonuria Not yet recruiting NCT01465100 Phase 1, Phase 2 Immunosuppression
29 Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria Terminated NCT01977820 Phase 2 Sapropterin;Placebo
30 Phenylketonuria, Oxidative Stress, and BH4 Terminated NCT01395394 Phase 2 Kuvan
31 Response to Phenylketonuria to Tetrahydrobiopterin (BH4) Unknown status NCT00244218 Phase 1 tetrahydrobiopterin (BH4)
32 Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria Completed NCT00634660 Phase 1 rAvPAL-PEG
33 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1 sapropterin dihydrochloride;Moxifloxacin
34 Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response Unknown status NCT00841100 Not Applicable Kuvan
35 Sapropterin Expanded Access Program Approved for marketing NCT00484991 Sapropterin dihydrochloride
36 Observational Study of Endothelial Dysfunction in Phenylketonuria Completed NCT02176603
37 Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis Completed NCT02440932 Not Applicable
38 Sapropterin in Individuals With Phenylketonuria Completed NCT00730080 Sapropterin (Kuvan)
39 Protein Requirements in Children With Phenylketonuria (PKU) Completed NCT01965691 Not Applicable
40 The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study Completed NCT01917344 Not Applicable
41 Simplified Diet Approach in Phenylketonuria Completed NCT02555579 Not Applicable
42 Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With Phenylketonuria Completed NCT00909012 Not Applicable
43 The Brain and Neuropsychological Functioning in Adults With Sapropterin Dihydrochloride Treated Phenylketonuria Completed NCT02297347
44 Phenylketonuria and Hyperphenylalaninemia Nutrition Study Completed NCT01879995
45 Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy Completed NCT00986973 Not Applicable Sapropterin
46 Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors Completed NCT00728676
47 The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU) Completed NCT00964236 Sapropterin
48 MRI Spectroscopy and Neuropsychological Functioning in Phenylketonuria Completed NCT03097250
49 Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU) Completed NCT00065299 Not Applicable
50 Simple Breath Test to Examine Phenylalanine Metabolism Completed NCT02009904

Search NIH Clinical Center for Phenylketonuria

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Phenylketonuria cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Phenylketonuria:
Hepatocyte transplantation for treatment of liver disorders
Embryonic/Adult Cultured Cells Related to Phenylketonuria:
Hepatocytes PMIDs: 15239608 12777539 9580649 22789058 22167636

Cochrane evidence based reviews: phenylketonurias

Sources

Genetic Tests for Phenylketonuria

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Genetic tests related to Phenylketonuria:

# Genetic test Affiliating Genes
1 Phenylketonuria 29 PAH
Sources

Anatomical Context for Phenylketonuria

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MalaCards organs/tissues related to Phenylketonuria:

41
Brain, Testes, Skin, Heart, Bone, Liver, Kidney
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Phenylketonuria:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Affected by disease, potential therapeutic candidate
Sources

Publications for Phenylketonuria

About this section

Articles related to Phenylketonuria:

(show top 50) (show all 1445)
# Title Authors Year
1
Large neutral amino acid supplementation as an alternative to the phenylalanine-restricted diet in adults with phenylketonuria: evidence from adult Pah-enu2 mice. ( 29175141 )
2018
2
Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil. ( 29749107 )
2018
3
Aptamer-based assay for monitoring genetic disorder phenylketonuria (PKU). ( 29777816 )
2018
4
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study. ( 29973227 )
2018
5
Hippocampal microglia modifications in C57Bl/6 Pah<sup>enu2</sup> and BTBR Pah<sup>enu2</sup> phenylketonuria (PKU) mice depend on the genetic background, irrespective of disturbed sleep patterns. ( 29772389 )
2018
6
Carbohydrate status in patients with phenylketonuria. ( 29945661 )
2018
7
Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with homocysteinmia in adulthood: A case report. ( 29465562 )
2018
8
Phenylketonuria: Our Experience in Nine Years at a Tertiary-level Referral Institute. ( 29899773 )
2018
9
Attention-deficit hyperactivity disorder in Brazilian patients with phenylketonuria. ( 29981005 )
2018
10
The S-oxidation of S-carboxymethyl-L-cysteine in hepatic cytosolic fractions from BTBR and phenylketonuria enu1 and enu2 mice. ( 29648495 )
2018
11
50 Years Ago in The Journal of Pediatrics: Variability in the Manifestations of Phenylketonuria/Transient Hyperphenylalaninemia. ( 29576183 )
2018
12
Nano-biosensor based on reduced graphene oxide and gold nanoparticles, for detection of phenylketonuria-associated DNA mutation. ( 29768223 )
2018
13
The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review. ( 29850564 )
2018
14
Psychological wellbeing in parents of children with phenylketonuria and association with treatment adherence. ( 29651832 )
2018
15
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. ( 29390883 )
2018
16
Non-invasive prenatal testing of pregnancies at risk for phenylketonuria. ( 29353259 )
2018
17
Response to the Letter to the Editor Regarding &amp;quot;Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria&amp;quot;. ( 29339635 )
2018
18
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM). ( 29653686 )
2018
19
Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis. ( 29941009 )
2018
20
Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem. ( 29278642 )
2018
21
Blood phenylalanine instability strongly correlates with anxiety in phenylketonuria. ( 29326880 )
2018
22
A new therapy prevents intellectual disability in mouse with phenylketonuria. ( 29661557 )
2018
23
Multiple SNPs Detection Based on Lateral Flow Assay for Phenylketonuria Diagnostic. ( 29451781 )
2018
24
Parenting a Child with Phenylketonuria: AnA Investigation into the Factors That Contribute toA Parental Distress. ( 29675588 )
2018
25
Assessing the Phenylketonuria Screening Program in Newborns, Iran 2015-2016. ( 29436795 )
2018
26
Acrodermatitis dysmetabolica in phenylketonuria. ( 29884334 )
2018
27
Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. ( 29316886 )
2018
28
50 Years Ago in The Journal of Pediatrics: Phenylketonuria: Evaluation of Therapy and Verification of Diagnosis. ( 29389455 )
2018
29
Vitamin/mineral and micronutrient status in patients with classical phenylketonuria. ( 29433755 )
2018
30
Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study. ( 29913481 )
2018
31
Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria. ( 29432026 )
2018
32
Generation of urine-derived induced pluripotent stem cells from a patient with phenylketonuria. ( 29862149 )
2018
33
Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review. ( 29909188 )
2018
34
The phenylketonuria patient: A recent dietetic therapeutic approach. ( 30359206 )
2018
35
Living with Phenylketonuria: Lessons from the PKU community. ( 30364670 )
2018
36
Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials. ( 30366815 )
2018
37
One-year follow-up of B vitamin and Iron status in patients with phenylketonuria provided tetrahydrobiopterin (BH4). ( 30373601 )
2018
38
Behavioral and Emotional Problems in Early-Treated Brazilian Children and Adolescents with Phenylketonuria. ( 30375370 )
2018
39
A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients. ( 30389586 )
2018
40
Reproductive experience of women living with phenylketonuria. ( 30416967 )
2018
41
The Use of Glycomacropeptide in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis. ( 30453665 )
2018
42
Transient phenylketonuria in premature infants. ( 30504004 )
2018
43
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. ( 30546086 )
2018
44
Speed of processing and executive functions in adults with phenylketonuria: Quick in finding the word, but not the ladybird. ( 28632427 )
2018
45
Predictive modelling of the exposure to steviol glycosides in Irish patients aged 1-3 years with phenylketonuria and cow's milk protein allergy. ( 29111886 )
2018
46
Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency virus. ( 29117799 )
2018
47
The influence of parental food preference and neophobia on children with phenylketonuria (PKU). ( 29124015 )
2018
48
Neuropsychological profile in parents of adult phenylketonuria patients. ( 29124442 )
2018
49
High Fracture Rates in Young Patients with Phenylketonuria. ( 29145199 )
2018
50
The Effects of Breastfeeding in Infants With Phenylketonuria. ( 29167077 )
2018
Sources

Variations for Phenylketonuria

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UniProtKB/Swiss-Prot genetic disease variations for Phenylketonuria:

75 (show top 50) (show all 206)
# Symbol AA change Variation ID SNP ID
1 PAH p.Ser16Pro VAR_000869 rs62642946
2 PAH p.Phe39Leu VAR_000870 rs62642926
3 PAH p.Ser40Leu VAR_000872 rs62642938
4 PAH p.Leu41Phe VAR_000873 rs62642928
5 PAH p.Lys42Ile VAR_000874 rs62635346
6 PAH p.Gly46Ser VAR_000875 rs74603784
7 PAH p.Ala47Val VAR_000876 rs118203925
8 PAH p.Leu48Ser VAR_000877 rs5030841
9 PAH p.Arg53His VAR_000878 rs118092776
10 PAH p.Phe55Leu VAR_000879 rs199475598
11 PAH p.Glu56Asp VAR_000880 rs199475567
12 PAH p.Ile65Asn VAR_000882 rs75193786
13 PAH p.Ile65Thr VAR_000883 rs75193786
14 PAH p.Ser67Pro VAR_000884 rs5030842
15 PAH p.Arg68Ser VAR_000885 rs76394784
16 PAH p.Glu76Ala VAR_000886 rs62507347
17 PAH p.Asp84Tyr VAR_000887 rs62514902
18 PAH p.Ser87Arg VAR_000888 rs62516151
19 PAH p.Thr92Ile VAR_000889 rs62514903
20 PAH p.Leu98Ser VAR_000891 rs62517167
21 PAH p.Ala104Asp VAR_000892 rs62642929
22 PAH p.Thr124Ile VAR_000893 rs199475571
23 PAH p.Asp129Tyr VAR_000894 rs199475606
24 PAH p.Asp143Gly VAR_000895 rs199475572
25 PAH p.His146Tyr VAR_000896 rs199475599
26 PAH p.Gly148Ser VAR_000897 rs80297647
27 PAH p.Asp151His VAR_000898 rs199475597
28 PAH p.Tyr154Asn VAR_000899 rs199475587
29 PAH p.Arg157Asn VAR_000900
30 PAH p.Arg158Gln VAR_000901 rs5030843
31 PAH p.Arg158Trp VAR_000902 rs75166491
32 PAH p.Gln160Pro VAR_000903 rs199475601
33 PAH p.Phe161Ser VAR_000904 rs79635844
34 PAH p.Ile164Thr VAR_000905 rs199475595
35 PAH p.Asn167Ile VAR_000906 rs77554925
36 PAH p.His170Arg VAR_000907 rs199475573
37 PAH p.Gly171Ala VAR_000908 rs199475596
38 PAH p.Gly171Arg VAR_000909 rs199475613
39 PAH p.Pro173Thr VAR_000910 rs199475574
40 PAH p.Ile174Thr VAR_000911 rs138809906
41 PAH p.Pro175Ala VAR_000912 rs199475604
42 PAH p.Arg176Leu VAR_000913 rs74486803
43 PAH p.Arg176Pro VAR_000914 rs74486803
44 PAH p.Val177Leu VAR_000915 rs199475602
45 PAH p.Glu178Gly VAR_000916 rs77958223
46 PAH p.Val190Ala VAR_000917 rs62514919
47 PAH p.Leu194Pro VAR_000918 rs5030844
48 PAH p.His201Arg VAR_000922 rs62517180
49 PAH p.His201Tyr VAR_000923 rs62517205
50 PAH p.Tyr204Cys VAR_000924 rs62514927

ClinVar genetic disease variations for Phenylketonuria:

6 (show top 50) (show all 763)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAH NM_000277.2(PAH): c.1315+1G> A single nucleotide variant Pathogenic rs5030861 GRCh37 Chromosome 12, 103234177: 103234177
2 PAH NM_000277.2(PAH): c.1315+1G> A single nucleotide variant Pathogenic rs5030861 GRCh38 Chromosome 12, 102840399: 102840399
3 PAH NM_000277.2(PAH): c.1222C> T (p.Arg408Trp) single nucleotide variant Pathogenic rs5030858 GRCh37 Chromosome 12, 103234271: 103234271
4 PAH NM_000277.2(PAH): c.1222C> T (p.Arg408Trp) single nucleotide variant Pathogenic rs5030858 GRCh38 Chromosome 12, 102840493: 102840493
5 PAH NM_000277.2(PAH): c.932T> C (p.Leu311Pro) single nucleotide variant Likely pathogenic rs62642936 GRCh37 Chromosome 12, 103240710: 103240710
6 PAH NM_000277.2(PAH): c.932T> C (p.Leu311Pro) single nucleotide variant Likely pathogenic rs62642936 GRCh38 Chromosome 12, 102846932: 102846932
7 PAH NM_000277.2(PAH): c.977G> A (p.Trp326Ter) single nucleotide variant Pathogenic rs62514959 GRCh37 Chromosome 12, 103238202: 103238202
8 PAH NM_000277.2(PAH): c.977G> A (p.Trp326Ter) single nucleotide variant Pathogenic rs62514959 GRCh38 Chromosome 12, 102844424: 102844424
9 PAH NM_000277.2(PAH): c.838G> A (p.Glu280Lys) single nucleotide variant Pathogenic rs62508698 GRCh37 Chromosome 12, 103246597: 103246597
10 PAH NM_000277.2(PAH): c.838G> A (p.Glu280Lys) single nucleotide variant Pathogenic rs62508698 GRCh38 Chromosome 12, 102852819: 102852819
11 PAH NM_000277.2(PAH): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs76296470 GRCh37 Chromosome 12, 103288534: 103288534
12 PAH NM_000277.2(PAH): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs76296470 GRCh38 Chromosome 12, 102894756: 102894756
13 PAH NM_000277.2(PAH): c.782G> A (p.Arg261Gln) single nucleotide variant Pathogenic/Likely pathogenic rs5030849 GRCh37 Chromosome 12, 103246653: 103246653
14 PAH NM_000277.2(PAH): c.782G> A (p.Arg261Gln) single nucleotide variant Pathogenic/Likely pathogenic rs5030849 GRCh38 Chromosome 12, 102852875: 102852875
15 PAH NM_000277.2(PAH): c.754C> T (p.Arg252Trp) single nucleotide variant Pathogenic/Likely pathogenic rs5030847 GRCh37 Chromosome 12, 103246681: 103246681
16 PAH NM_000277.2(PAH): c.754C> T (p.Arg252Trp) single nucleotide variant Pathogenic/Likely pathogenic rs5030847 GRCh38 Chromosome 12, 102852903: 102852903
17 Pathogenic NG_008690.1: g.22736_29335delinsGGCACCTG indel 0 rsRCV000000615;RCV000088856 Chromosome 12, 65658016:65664615 585
18 Pathogenic NG_008690.1: g.22736_29335delinsGGCACCTG indel 0 rsRCV000000615;RCV000088856 Chromosome 12, 103287046:103293645 585
19 PAH NM_000277.2(PAH): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs62514891 GRCh37 Chromosome 12, 103310908: 103310908
20 PAH NM_000277.2(PAH): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs62514891 GRCh38 Chromosome 12, 102917130: 102917130
21 PAH NM_000277.2(PAH): c.473G> A (p.Arg158Gln) single nucleotide variant Pathogenic rs5030843 GRCh37 Chromosome 12, 103260410: 103260410
22 PAH NM_000277.2(PAH): c.473G> A (p.Arg158Gln) single nucleotide variant Pathogenic rs5030843 GRCh38 Chromosome 12, 102866632: 102866632
23 PAH NM_000277.2(PAH): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs5030846 GRCh37 Chromosome 12, 103246708: 103246708
24 PAH NM_000277.2(PAH): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs5030846 GRCh38 Chromosome 12, 102852930: 102852930
25 PAH NM_000277.2(PAH): c.842C> T (p.Pro281Leu) single nucleotide variant Pathogenic rs5030851 GRCh37 Chromosome 12, 103246593: 103246593
26 PAH NM_000277.2(PAH): c.842C> T (p.Pro281Leu) single nucleotide variant Pathogenic rs5030851 GRCh38 Chromosome 12, 102852815: 102852815
27 PAH NM_000277.2(PAH): c.611A> G (p.Tyr204Cys) single nucleotide variant Pathogenic/Likely pathogenic rs62514927 GRCh37 Chromosome 12, 103249009: 103249009
28 PAH NM_000277.2(PAH): c.611A> G (p.Tyr204Cys) single nucleotide variant Pathogenic/Likely pathogenic rs62514927 GRCh38 Chromosome 12, 102855231: 102855231
29 PAH NM_000277.2(PAH): c.728G> A (p.Arg243Gln) single nucleotide variant Pathogenic rs62508588 GRCh37 Chromosome 12, 103246707: 103246707
30 PAH NM_000277.2(PAH): c.728G> A (p.Arg243Gln) single nucleotide variant Pathogenic rs62508588 GRCh38 Chromosome 12, 102852929: 102852929
31 PAH NM_000277.2(PAH): c.1238G> C (p.Arg413Pro) single nucleotide variant Pathogenic rs79931499 GRCh37 Chromosome 12, 103234255: 103234255
32 PAH NM_000277.2(PAH): c.1238G> C (p.Arg413Pro) single nucleotide variant Pathogenic rs79931499 GRCh38 Chromosome 12, 102840477: 102840477
33 PAH NM_000277.2(PAH): c.1241A> G (p.Tyr414Cys) single nucleotide variant Pathogenic rs5030860 GRCh37 Chromosome 12, 103234252: 103234252
34 PAH NM_000277.2(PAH): c.1241A> G (p.Tyr414Cys) single nucleotide variant Pathogenic rs5030860 GRCh38 Chromosome 12, 102840474: 102840474
35 PAH NM_000277.2(PAH): c.442-1G> A single nucleotide variant Pathogenic rs62514907 GRCh37 Chromosome 12, 103260442: 103260442
36 PAH NM_000277.2(PAH): c.442-1G> A single nucleotide variant Pathogenic rs62514907 GRCh38 Chromosome 12, 102866664: 102866664
37 PAH NM_000277.2(PAH): c.1068C> G (p.Tyr356Ter) single nucleotide variant Pathogenic/Likely pathogenic rs62516095 GRCh37 Chromosome 12, 103237555: 103237555
38 PAH NM_000277.2(PAH): c.1068C> G (p.Tyr356Ter) single nucleotide variant Pathogenic/Likely pathogenic rs62516095 GRCh38 Chromosome 12, 102843777: 102843777
39 PAH NM_000277.2(PAH): c.814G> T (p.Gly272Ter) single nucleotide variant Pathogenic rs62514952 GRCh37 Chromosome 12, 103246621: 103246621
40 PAH NM_000277.2(PAH): c.814G> T (p.Gly272Ter) single nucleotide variant Pathogenic rs62514952 GRCh38 Chromosome 12, 102852843: 102852843
41 PAH NM_000277.2(PAH): c.1092_1094delTCT (p.Leu365del) deletion Pathogenic rs62516096 GRCh38 Chromosome 12, 102843751: 102843753
42 PAH NM_000277.2(PAH): c.1092_1094delTCT (p.Leu365del) deletion Pathogenic rs62516096 GRCh37 Chromosome 12, 103237529: 103237531
43 PAH NM_000277.2(PAH): c.818C> T (p.Ser273Phe) single nucleotide variant Pathogenic rs62514953 GRCh37 Chromosome 12, 103246617: 103246617
44 PAH NM_000277.2(PAH): c.818C> T (p.Ser273Phe) single nucleotide variant Pathogenic rs62514953 GRCh38 Chromosome 12, 102852839: 102852839
45 PAH NM_000277.2(PAH): c.842+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs5030852 GRCh37 Chromosome 12, 103246592: 103246592
46 PAH NM_000277.2(PAH): c.842+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs5030852 GRCh38 Chromosome 12, 102852814: 102852814
47 PAH NM_000277.2(PAH): c.764T> C (p.Leu255Ser) single nucleotide variant Likely pathogenic rs62642930 GRCh37 Chromosome 12, 103246671: 103246671
48 PAH NM_000277.2(PAH): c.764T> C (p.Leu255Ser) single nucleotide variant Likely pathogenic rs62642930 GRCh38 Chromosome 12, 102852893: 102852893
49 PAH NM_000277.2(PAH): c.1197A> T (p.Val399=) single nucleotide variant Pathogenic rs199475584 GRCh38 Chromosome 12, 102843648: 102843648
50 PAH NM_000277.2(PAH): c.1197A> T (p.Val399=) single nucleotide variant Pathogenic rs199475584 GRCh37 Chromosome 12, 103237426: 103237426
Sources

Expression for Phenylketonuria

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Search GEO for disease gene expression data for Phenylketonuria.
Sources

Pathways for Phenylketonuria

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Pathways related to Phenylketonuria according to KEGG:

37
# Name Kegg Source Accession
1 Phenylalanine, tyrosine and tryptophan biosynthesis hsa00400
2 Folate biosynthesis hsa00790

Pathways related to Phenylketonuria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.4 ACADM ADSL BTD G6PD GCH1 HADHA
2
Carbon metabolism 37
Show member pathways
 11.88 ACADM G6PD HADHA OTC PAH
3
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.77 ACADM HADHA PAH TH
4
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism 66
Show member pathways
 11.67 PAH QDPR SLC7A5
5
Amino Acid metabolism 1
11.5 ACADM OTC TH
6
beta-Alanine metabolism (KEGG) 37
Show member pathways
 11.01 ACADM HADHA
7
Propanoate metabolism 37
10.96 ACADM HADHA
8
Biogenic Amine Synthesis 1
Show member pathways
 10.78 PAH TH
9
Folate biosynthesis 37
Show member pathways
 10.48 GCH1 PAH PTS QDPR TH
10
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA 66
Show member pathways
 10.32 ACADM HADHA
Sources

GO Terms for Phenylketonuria

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Cellular components related to Phenylketonuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.1 ACADM HADHA NIPSNAP1 OTC PTS TH

Biological processes related to Phenylketonuria according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.81 BGLAP HADHA OTC TH
2 oxidation-reduction process GO:0055114 9.8 ACADM G6PD HADHA PAH QDPR TH
3 metabolic process GO:0008152 9.74 GCH1 HADHA PAH
4 fatty acid metabolic process GO:0006631 9.73 ACADM HADHA TH
5 response to organic cyclic compound GO:0014070 9.72 BGLAP G6PD TH
6 response to ethanol GO:0045471 9.71 BGLAP G6PD TH
7 response to starvation GO:0042594 9.58 ACADM ADSL
8 response to nutrient levels GO:0031667 9.54 BGLAP OTC TH
9 neurotransmitter biosynthetic process GO:0042136 9.52 PAH TH
10 L-phenylalanine catabolic process GO:0006559 9.49 PAH QDPR
11 cofactor metabolic process GO:0051186 9.48 GCH1 PTS
12 dopamine biosynthetic process GO:0042416 9.46 GCH1 TH
13 aromatic amino acid family metabolic process GO:0009072 9.43 PAH TH
14 response to zinc ion GO:0010043 9.43 BGLAP OTC TH
15 catecholamine biosynthetic process GO:0042423 9.4 PAH TH
16 cellular amino acid metabolic process GO:0006520 9.26 OTC PTS QDPR SLC7A5
17 dihydrobiopterin metabolic process GO:0051066 9.16 GCH1 QDPR
18 tetrahydrobiopterin biosynthetic process GO:0006729 8.8 GCH1 PTS QDPR

Molecular functions related to Phenylketonuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.43 ADSL HADHA PTS
2 amino acid binding GO:0016597 9.16 OTC TH
3 oxidoreductase activity GO:0016491 9.1 ACADM G6PD HADHA PAH QDPR TH
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 8.96 PAH TH
Sources

Sources for Phenylketonuria

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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