HPA
MCID: PHN003
MIFTS: 72

Phenylketonuria (HPA) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Phenylketonuria

Aliases & Descriptions for Phenylketonuria:

Name: Phenylketonuria 54 38 12 71 50 24 25 56 66 13 41 14
Pku 12 50 24 25 56 66
Phenylalanine Hydroxylase Deficiency 23 50 24 56
Pah Deficiency 23 24 25 56
Phenylketonurias 52 42 69
Folling Disease 50 24 25
Phenylketonuria, Maternal 42 69
Maternal Phenylketonuria 12 56
Deficiency Disease, Phenylalanine Hydroxylase 25
Phenylalanine Hydroxylase Deficiency Disease 25
Non-Phenylketonuria Hyperphenylalaninemia 66
Hyperphenylalaninemic Embryopathy 56
Maternal Hyperphenylalaninemia 56
Oligophrenia Phenylpyruvica 50
Phenylketonuric Embryopathy 56
Phenylalanine Hydroxylase 13
Classical Phenylketonuria 69
Phenylketonuria Maternal 52
Variant Phenylketonuria 29
Hyperphenylalaninaemia 69
Hyperphenylalaninemia 66
Følling's Disease 12
Folling's Disease 25
Phenylalaninemia 12
Maternal Pku 56
Non-Pku Hpa 66
Hpa 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
phenylketonuria:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 261600
Disease Ontology 12 DOID:9281
ICD9CM 35 270.1
NCIt 47 C81315
Orphanet 56 ORPHA716 ORPHA2209
ICD10 via Orphanet 34 E70.0 E70.1
MESH via Orphanet 43 D010661
UMLS via Orphanet 70 C0031485 C0085547
ICD10 33 E70.0

Summaries for Phenylketonuria

NIH Rare Diseases : 50 phenylketonuria (pku) is an inherited disorder that increases the levels of phenylalanine in the blood. phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. if pku is not treated, phenylalanine can build up to harmful levels in the body. the signs and symptoms of pku vary from mild to severe. the most severe form of this disorder is known as classic pku. without treatment, these children develop permanent intellectual disability. light skin and hair, seizures, delayed development, behavioral problems, and psychiatric disorders are also common. less severe forms of this condition, sometimes called variant pku and non-pku hyperphenylalaninemia, have a smaller risk of brain damage. babies born to mothers with pku and women who no longer follow a low-phenylalanine diet have a risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. pku is caused by changes (mutations ) in the pah gene. it is inherited in an autosomal recessive manner. because pku can be detected by a simple blood test and is treatable, newborn screening is available for this disorder. the best treatment for pku is a diet of low-protein foods. last updated: 12/28/2015

MalaCards based summary : Phenylketonuria, also known as pku, is related to mild phenylketonuria and classic phenylketonuria, and has symptoms including aminoaciduria, intellectual disability, severe and seizures. An important gene associated with Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways/superpathways are Metabolism and Carbon metabolism. 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 homeostasis/metabolism and integument

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 : 54 Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine... (261600) more...

MedlinePlus : 41 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 : 66 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 : 71 Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino... more...

GeneReviews: NBK1504

Related Diseases for Phenylketonuria

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

(show top 50) (show all 98)
id Related Disease Score Top Affiliating Genes
1 mild phenylketonuria 12.2
2 classic phenylketonuria 12.1
3 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 11.8
4 hyperphenylalaninemia 11.4
5 maternal hyperphenylalaninemia 11.2
6 spasticity 11.1
7 microcephaly 11.1
8 hyperphenylalaninemia, bh4-deficient, c 11.0
9 hyperphenylalaninemia, bh4-deficient, b 10.8
10 glycine encephalopathy 10.8
11 amino acid metabolic disorder 10.8
12 hyperphenylalaninemia, bh4-deficient, a 10.8
13 vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome 10.2 GCH1 TH
14 spinocerebellar ataxia, autosomal recessive 7 10.2 GCH1 TH
15 x-linked intellectual disability, seemanova type 10.2 PAH PTS QDPR
16 solar retinopathy 10.2 PAH QDPR TTR
17 lethal congenital contracture syndrome 1 10.1 GCH1 TH
18 myocardium cancer 10.1 BTD PAH PTS
19 hypothyroidism 10.1
20 halal setton wang syndrome 10.0 GCH1 PTS QDPR TH
21 mental retardation hypocupremia hypobetalipoproteinemia 10.0 G6PD TTR
22 muscular dystrophy, limb-girdle, type ic 10.0 ACADM BTD
23 gum cancer 10.0 ACADM BTD
24 congenital hypothyroidism 10.0
25 cerebritis 10.0
26 idiopathic malabsorption due to bile acid synthesis defects 10.0 PAH PCBD1 PTS QDPR
27 atrial fibrillation, familial, 4 10.0 ACADM BTD PTS
28 galactosemia 10.0
29 mild hyperphenylalaninemia 9.9
30 maple syrup urine disease, mild variant 9.8 ACADM HADHA
31 malignant cardiac peripheral nerve sheath neoplasm 9.8 ACADM HADHA
32 vitamin b12 deficiency 9.8
33 7q11.23 duplication syndrome 9.8 GCH1 PAH PCBD1 PTS QDPR TH
34 acute insulin response 9.8 ACADM BTD HADHA
35 dementia 9.8
36 homocystinuria 9.8
37 tetrahydrobiopterin deficiency 9.8
38 neonatal hypothyroidism 9.8
39 obesity 9.8
40 fibular hypoplasia 9.7 ACADM HADHA
41 hepatitis 9.7
42 intellectual disability 9.7
43 attention deficit-hyperactivity disorder 9.7
44 leukemia 9.7
45 epilepsy 9.7
46 aminoacidopathies 9.7
47 pyruvate kinase deficiency 9.7
48 precocious puberty 9.7
49 obesity, morbid, due to leptin receptor deficiency 9.5 ACADM BTD HADHA NIPSNAP1 PAH
50 hyperglycinuria 9.5

Graphical network of the top 20 diseases related to Phenylketonuria:



Diseases related to Phenylketonuria

Symptoms & Phenotypes for Phenylketonuria

Symptoms by clinical synopsis from OMIM:

261600

Clinical features from OMIM:

261600

Human phenotypes related to Phenylketonuria:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aminoaciduria 56 32 Very frequent (99-80%) HP:0003355
2 intellectual disability, severe 56 32 Frequent (79-30%) HP:0010864
3 seizures 32 HP:0001250
4 dry skin 32 HP:0000958
5 depression 32 HP:0000716
6 intellectual disability 32 HP:0001249
7 hyperreflexia 32 HP:0001347
8 cerebral calcification 32 HP:0002514
9 cataract 32 HP:0000518
10 microcephaly 32 HP:0000252
11 irritability 32 HP:0000737
12 malformation of the heart and great vessels 56 Occasional (29-5%)
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 obsessive-compulsive behavior 32 HP:0000722
18 generalized hypopigmentation 32 HP:0007513
19 aggressive behavior 32 HP:0000718
20 eczema 32 HP:0000964
21 abnormality of cardiovascular system morphology 32 HP:0030680
22 scleroderma 32 HP:0100324
23 self-mutilation 32 HP:0000742
24 fair hair 32 HP:0002286
25 hyperphenylalaninemia 32 HP:0004923
26 phenylpyruvic acidemia 32 HP:0004920
27 reduced phenylalanine hydroxylase activity 32 HP:0005982
28 maternal hyperphenylalaninemia 32 HP:0100610

UMLS symptoms related to Phenylketonuria:


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

MGI Mouse Phenotypes related to Phenylketonuria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 PTS QDPR SLC7A5 TH TPH1 TTR
2 integument MP:0010771 9.5 BTD NIPSNAP1 PAH PCBD1 PTS TH
3 pigmentation MP:0001186 8.92 BTD PAH PCBD1 PTS

Drugs & Therapeutics for Phenylketonuria

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

(show top 50) (show all 64)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4,Phase 3,Phase 2,Phase 1 52-53-9 2520
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
4
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
5 tannic acid Approved, Nutraceutical Phase 4
6 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1
7 calcium channel blockers Phase 4,Phase 3,Phase 2,Phase 1
8 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
9 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Neurotransmitter Agents Phase 4
11 Pharmaceutical Solutions Phase 4
12 Antioxidants Phase 4
13 Protective Agents Phase 4
14 Central Nervous System Depressants Phase 4
15 Dopamine Agents Phase 4
16
Serotonin Phase 4 50-67-9 5202
17 Serotonin Agents Phase 4
18 phenylalanine Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
19 Dextrans Phase 3
20
Nitric Oxide Approved Phase 2 10102-43-9 145068
21
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
22
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
23 Hematinics Phase 2
24 Micronutrients Phase 2
25 Trace Elements Phase 2
26 Vitamin B Complex Phase 2
27 Vitamins Phase 2
28 Liver Extracts Phase 1, Phase 2
29 Folate Nutraceutical Phase 2
30 Vitamin B9 Nutraceutical Phase 2
31
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757 53477783
32
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
33
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
34
Norgestimate Approved Phase 1 35189-28-7 6540478
35 Anti-Bacterial Agents Phase 1
36 Anti-Infective Agents Phase 1
37 Contraceptive Agents Phase 1
38 Contraceptives, Oral Phase 1
39 Contraceptives, Oral, Combined Phase 1
40 Estradiol 17 beta-cypionate Phase 1
41 Estradiol 3-benzoate Phase 1
42 Estradiol valerate Phase 1 979-32-8
43 Fluoroquinolones Phase 1
44 Norgestimate, ethinyl estradiol drug combination Phase 1
45 Nucleic Acid Synthesis Inhibitors Phase 1
46 Polyestradiol phosphate Phase 1
47 Topoisomerase Inhibitors Phase 1
48
Coal tar Approved 8007-45-2
49
Menthol Approved 2216-51-5 16666
50 Hormone Antagonists

Interventional clinical trials:

(show top 50) (show all 76)
id Name Status NCT ID Phase
1 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4
2 Antioxidant Signature in Adult Patients With Phenylketonuria Completed NCT02212288 Phase 4
3 Effects of Kuvan on Melatonin Secretion Completed NCT01617070 Phase 4
4 Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Active, not recruiting NCT01965912 Phase 4
5 The Effectiveness of Kuvan in Amish PKU Patients Not yet recruiting NCT02677870 Phase 4
6 Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria Completed NCT01732471 Phase 3
7 Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 Completed NCT00332189 Phase 3
8 Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels Completed NCT00104247 Phase 3
9 Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients Completed NCT01114737 Phase 3
10 Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet Completed NCT00272792 Phase 3
11 A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels Completed NCT00225615 Phase 3
12 An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Completed NCT01819727 Phase 3
13 Kuvan® in Phenylketonuria Patients Less Than 4 Years Old Active, not recruiting NCT01376908 Phase 3
14 Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU Active, not recruiting NCT00838435 Phase 3
15 Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU Active, not recruiting NCT01889862 Phase 3
16 Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety Terminated NCT00432822 Phase 2, Phase 3
17 The Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With Classical PKU Withdrawn NCT01650909 Phase 3
18 Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria Completed NCT00104260 Phase 2
19 Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU) Completed NCT01212744 Phase 2
20 A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks Completed NCT01560286 Phase 2
21 Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU Completed NCT00925054 Phase 2
22 Study of BH4, a New and Simple Treatment of Mild PKU Completed NCT00260000 Phase 2
23 Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency Completed NCT00355264 Phase 2
24 Neurovascular Transduction During Exercise in Chronic Kidney Disease Recruiting NCT02947750 Phase 2
25 Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003) Active, not recruiting NCT00924703 Phase 2
26 Liver Cell Transplant for Phenylketonuria Suspended NCT01465100 Phase 1, Phase 2
27 Phenylketonuria, Oxidative Stress, and BH4 Terminated NCT01395394 Phase 2
28 Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria Terminated NCT01977820 Phase 2
29 Response to Phenylketonuria to Tetrahydrobiopterin (BH4) Unknown status NCT00244218 Phase 1
30 Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria Completed NCT00634660 Phase 1
31 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Completed NCT00789568 Phase 1
32 Sapropterin in Individuals With Phenylketonuria Unknown status NCT00730080
33 Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response Unknown status NCT00841100
34 Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders Unknown status NCT01274026
35 Sapropterin Expanded Access Program Approved for marketing NCT00484991
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
38 Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With Phenylketonuria Completed NCT00909012
39 Protein Requirements in Children With Phenylketonuria (PKU) Completed NCT01965691
40 The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study Completed NCT01917344
41 Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU) Completed NCT00065299
42 Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors Completed NCT00728676
43 Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy Completed NCT00986973
44 The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU) Completed NCT00964236
45 Phenylketonuria and Hyperphenylalaninemia Nutrition Study Completed NCT01879995
46 Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria Completed NCT01659749
47 The Effect of Supplemental Docosahexaenoic Acid (DHA) on Neurocognitive Outcomes in Teen and Adult Women With Phenylketonuria(PKU) Completed NCT00892554
48 Simple Breath Test to Examine Phenylalanine Metabolism Completed NCT02009904 Early Phase 1
49 Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With Phenylketonuria Completed NCT00006142
50 Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria Completed NCT01428258

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

Genetic Tests for Phenylketonuria

Genetic tests related to Phenylketonuria:

id Genetic test Affiliating Genes
1 Phenylketonuria 29 24
2 Phenylalanine Hydroxylase Deficiency 24 PAH

Anatomical Context for Phenylketonuria

MalaCards organs/tissues related to Phenylketonuria:

39
Brain, Testes, Skin, Heart, Bone, Liver, Cortex
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Phenylketonuria:
id Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate, affected by disease

Publications for Phenylketonuria

Articles related to Phenylketonuria:

(show top 50) (show all 912)
id Title Authors Year
1
Impact of phenylketonuria type meal on appetite, thermic effect of feeding and postprandial fat oxidation. ( 28318688 )
2017
2
Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria. ( 28282402 )
2017
3
Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire. ( 28274259 )
2017
4
Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU). ( 28382600 )
2017
5
The Indicator Amino Acid Oxidation Method with the Use of l-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria. ( 28053173 )
2017
6
A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria. ( 28386663 )
2017
7
Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria. ( 28400091 )
2017
8
Psychological and psychosocial implications for parenting a child with phenylketonuria: a systematic review. ( 28472877 )
2017
9
Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism. ( 28468253 )
2017
10
50 Years Ago in The Journal of Pediatrics: Conference on Treatment of Phenylketonuria. ( 28010791 )
2017
11
Cognitive Outcomes in Early-Treated Adults With Phenylketonuria (PKU): A Comprehensive Picture Across Domains. ( 28080075 )
2017
12
Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study. ( 28285739 )
2017
13
Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels. ( 28504493 )
2017
14
Reduced bone mineral density in Chinese children with phenylketonuria. ( 28489557 )
2017
15
Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation. ( 28491816 )
2017
16
Key European guidelines for the diagnosis and management of patients with phenylketonuria. ( 28082082 )
2017
17
Sleep Disturbances in Phenylketonuria: An Explorative Study in Men and Mice. ( 28491049 )
2017
18
Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source. ( 28402322 )
2017
19
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria. ( 28293905 )
2017
20
Effects of Short-Term Calcium Supplementation in Children and Adolescents with Phenylketonuria. ( 28302355 )
2017
21
Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU. ( 28520731 )
2017
22
Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria. ( 28334709 )
2017
23
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study. ( 28318283 )
2017
24
Phenylketonuria (PKU): A problem solved? ( 27014571 )
2016
25
Biochemical Evaluation of Phenylalanine Ammonia Lyase from Endemic Plant Cyathobasis fruticulosa (Bunge) Aellen. for the Dietary Treatment of Phenylketonuria. ( 27956861 )
2016
26
Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria. ( 27450369 )
2016
27
Evaluation of trace element and mineral status and related to levels of amino acid in children with phenylketonuria. ( 27348726 )
2016
28
Is Propofol Safe in Patients With Phenylketonuria? ( 28027068 )
2016
29
Challenges of Implementation of the National Phenylketonuria Screening Program in Iran: A Qualitative Study. ( 27957302 )
2016
30
Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study. ( 26914933 )
2016
31
Phenylketonuria is not a risk factor for changes of inflammation status as assessed by interleukin 6 and interleukin 8 concentrations. ( 28071012 )
2016
32
A Specific Nutrient Combination Attenuates the Reduced Expression of PSD-95 in the Proximal Dendrites of Hippocampal Cell Body Layers in a Mouse Model of Phenylketonuria. ( 27102170 )
2016
33
Therapeutic brain modulation with targeted large neutral amino acid supplements in the Pah-enu2 phenylketonuria mouse model. ( 27655443 )
2016
34
Serum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study. ( 27169416 )
2016
35
Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity. ( 27682710 )
2016
36
Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria. ( 27269713 )
2016
37
One too many: intellectual disability secondary to undiagnosed phenylketonuria. ( 27738300 )
2016
38
The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014. ( 27469133 )
2016
39
Phone-based motivational interviewing to increase self-efficacy in individuals with phenylketonuria. ( 27014576 )
2016
40
Dietary glycemic index, glycemic load and metabolic profile in children with phenylketonuria. ( 28081989 )
2016
41
Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study. ( 27832415 )
2016
42
Biochemical analysis of Centaurea depressa phenylalanine ammonia lyase (PAL) for biotechnological applications in phenylketonuria (PKU). ( 27246528 )
2016
43
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. ( 27121329 )
2016
44
Impaired Neurotransmission in Early-treated Phenylketonuria Patients. ( 28284394 )
2016
45
Genetics of Phenylketonuria: Then and Now. ( 26919687 )
2016
46
Nutritional status of patients with phenylketonuria in Japan. ( 27595068 )
2016
47
Relationship between age and white matter integrity in children with phenylketonuria. ( 27114916 )
2016
48
Inhibition of Fibrillar Assemblies of l-Phenylalanine by Crown Ethers: A Potential Approach toward Phenylketonuria. ( 27403653 )
2016
49
Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria. ( 27805419 )
2016
50
Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography. ( 27878409 )
2016

Variations for Phenylketonuria

UniProtKB/Swiss-Prot genetic disease variations for Phenylketonuria:

66 (show top 50) (show all 206)
id 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 187)
id Gene Variation Type Significance SNP ID Assembly Location
1 PAH NM_000277.1(PAH): c.1315+1G> A single nucleotide variant Pathogenic rs5030861 GRCh37 Chromosome 12, 103234177: 103234177
2 PAH NM_000277.1(PAH): c.1222C> T (p.Arg408Trp) single nucleotide variant Pathogenic rs5030858 GRCh37 Chromosome 12, 103234271: 103234271
3 PAH NM_000277.1(PAH): c.932T> C (p.Leu311Pro) single nucleotide variant Pathogenic/Likely pathogenic rs62642936 GRCh37 Chromosome 12, 103240710: 103240710
4 PAH NM_000277.1(PAH): c.977G> A (p.Trp326Ter) single nucleotide variant Pathogenic rs62514959 GRCh37 Chromosome 12, 103238202: 103238202
5 PAH NM_000277.1(PAH): c.838G> A (p.Glu280Lys) single nucleotide variant Pathogenic rs62508698 GRCh37 Chromosome 12, 103246597: 103246597
6 PAH NM_000277.1(PAH): c.331C> T (p.Arg111Ter) single nucleotide variant Pathogenic rs76296470 GRCh37 Chromosome 12, 103288534: 103288534
7 PAH NM_000277.1(PAH): c.782G> A (p.Arg261Gln) single nucleotide variant Pathogenic/Likely pathogenic rs5030849 GRCh37 Chromosome 12, 103246653: 103246653
8 PAH NM_000277.1(PAH): c.754C> T (p.Arg252Trp) single nucleotide variant Pathogenic/Likely pathogenic rs5030847 GRCh37 Chromosome 12, 103246681: 103246681
9 NG_008690.1: g.22736_29335delinsGGCACCTG indel Pathogenic GRCh38 Chromosome 12, 65658016: 65664615
10 PAH NM_000277.1(PAH): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs62514891 GRCh37 Chromosome 12, 103310908: 103310908
11 PAH NM_000277.1(PAH): c.473G> A (p.Arg158Gln) single nucleotide variant Pathogenic rs5030843 GRCh37 Chromosome 12, 103260410: 103260410
12 PAH NM_000277.1(PAH): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs5030846 GRCh37 Chromosome 12, 103246708: 103246708
13 PAH NM_000277.1(PAH): c.842C> T (p.Pro281Leu) single nucleotide variant Pathogenic rs5030851 GRCh37 Chromosome 12, 103246593: 103246593
14 PAH NM_000277.1(PAH): c.611A> G (p.Tyr204Cys) single nucleotide variant Pathogenic/Likely pathogenic rs62514927 GRCh37 Chromosome 12, 103249009: 103249009
15 PAH NM_000277.1(PAH): c.728G> A (p.Arg243Gln) single nucleotide variant Pathogenic rs62508588 GRCh37 Chromosome 12, 103246707: 103246707
16 PAH NM_000277.1(PAH): c.1238G> C (p.Arg413Pro) single nucleotide variant Pathogenic rs79931499 GRCh37 Chromosome 12, 103234255: 103234255
17 PAH NM_000277.1(PAH): c.1241A> G (p.Tyr414Cys) single nucleotide variant Pathogenic rs5030860 GRCh37 Chromosome 12, 103234252: 103234252
18 PAH NM_000277.1(PAH): c.442-1G> A single nucleotide variant Pathogenic rs62514907 GRCh37 Chromosome 12, 103260442: 103260442
19 PAH NM_000277.1(PAH): c.1068C> G (p.Tyr356Ter) single nucleotide variant Pathogenic/Likely pathogenic rs62516095 GRCh37 Chromosome 12, 103237555: 103237555
20 PAH NM_000277.1(PAH): c.814G> T (p.Gly272Ter) single nucleotide variant Pathogenic rs62514952 GRCh37 Chromosome 12, 103246621: 103246621
21 PAH NM_000277.1(PAH): c.1092_1094delTCT (p.Leu365del) deletion Pathogenic rs62516096 GRCh38 Chromosome 12, 102843751: 102843753
22 PAH NM_000277.1(PAH): c.818C> T (p.Ser273Phe) single nucleotide variant Pathogenic rs62514953 GRCh37 Chromosome 12, 103246617: 103246617
23 PAH NM_000277.1(PAH): c.842+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs5030852 GRCh37 Chromosome 12, 103246592: 103246592
24 PAH NM_000277.1(PAH): c.764T> C (p.Leu255Ser) single nucleotide variant Pathogenic rs62642930 GRCh37 Chromosome 12, 103246671: 103246671
25 PAH NM_000277.1(PAH): c.1197A> T (p.Val399=) single nucleotide variant Pathogenic rs199475584 GRCh38 Chromosome 12, 102843648: 102843648
26 PAH NM_000277.1(PAH): c.776C> T (p.Ala259Val) single nucleotide variant Pathogenic/Likely pathogenic rs118203921 GRCh37 Chromosome 12, 103246659: 103246659
27 PAH NM_000277.1(PAH): c.829T> G (p.Tyr277Asp) single nucleotide variant Pathogenic rs78655458 GRCh37 Chromosome 12, 103246606: 103246606
28 PAH NM_000277.1(PAH): c.284_286delTCA (p.Ile95del) deletion Pathogenic/Likely pathogenic rs62508727 GRCh37 Chromosome 12, 103288579: 103288581
29 PAH NM_000277.1(PAH): c.117C> G (p.Phe39Leu) single nucleotide variant Pathogenic rs62642926 GRCh37 Chromosome 12, 103306620: 103306620
30 PAH PAH, SER349ARG undetermined variant Pathogenic
31 PAH NM_000277.1(PAH): c.1066-11G> A single nucleotide variant Pathogenic rs5030855 GRCh37 Chromosome 12, 103237568: 103237568
32 PAH NM_000277.1(PAH): c.143T> C (p.Leu48Ser) single nucleotide variant Pathogenic rs5030841 GRCh37 Chromosome 12, 103306594: 103306594
33 PAH NM_000277.1(PAH): c.662A> G (p.Glu221Gly) single nucleotide variant Pathogenic rs62514934 GRCh37 Chromosome 12, 103248958: 103248958
34 PAH NM_000277.1(PAH): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs5030850 GRCh37 Chromosome 12, 103246654: 103246654
35 PAH NM_000277.1(PAH): c.165delT (p.Phe55Leufs) deletion Pathogenic/Likely pathogenic rs199475566 GRCh37 Chromosome 12, 103306572: 103306572
36 PAH NM_000277.1(PAH): c.1223G> A (p.Arg408Gln) single nucleotide variant Pathogenic rs5030859 GRCh37 Chromosome 12, 103234270: 103234270
37 PAH NM_000277.1(PAH): c.896T> G (p.Phe299Cys) single nucleotide variant Pathogenic/Likely pathogenic rs62642933 GRCh37 Chromosome 12, 103245481: 103245481
38 PAH NM_000277.1(PAH): c.842+2T> A single nucleotide variant Pathogenic rs62514955 GRCh37 Chromosome 12, 103246591: 103246591
39 PAH NM_000277.1(PAH): c.1045T> C (p.Ser349Pro) single nucleotide variant Pathogenic/Likely pathogenic rs62508646 GRCh37 Chromosome 12, 103238134: 103238134
40 PAH NM_000277.1(PAH): c.1243G> A (p.Asp415Asn) single nucleotide variant Pathogenic rs62644499 GRCh37 Chromosome 12, 103234250: 103234250
41 PAH NM_000277.1(PAH): c.916A> G (p.Ile306Val) single nucleotide variant Pathogenic/Likely pathogenic rs62642934 GRCh37 Chromosome 12, 103240726: 103240726
42 PAH NM_000277.1(PAH): c.1162G> A (p.Val388Met) single nucleotide variant Pathogenic rs62516101 GRCh37 Chromosome 12, 103237461: 103237461
43 PAH NM_000277.1(PAH): c.1092_1106delTCTCCCCCTGGAGCT (p.Leu365_Leu369del) deletion Pathogenic rs62516097 GRCh37 Chromosome 12, 103237517: 103237531
44 PAH NM_000277.1(PAH): c.731C> T (p.Pro244Leu) single nucleotide variant Pathogenic rs118203923 GRCh37 Chromosome 12, 103246704: 103246704
45 PAH NM_000277.1(PAH): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs62514893 GRCh37 Chromosome 12, 103310906: 103310906
46 PAH NM_000277.1(PAH): c.1066-3C> T single nucleotide variant Pathogenic/Likely pathogenic rs62507344 GRCh37 Chromosome 12, 103237560: 103237560
47 PAH NM_000277.1(PAH): c.1169A> G (p.Glu390Gly) single nucleotide variant Pathogenic/Likely pathogenic rs5030856 GRCh37 Chromosome 12, 103237454: 103237454
48 PAH NM_000277.1(PAH): c.1076C> G (p.Ser359Ter) single nucleotide variant Pathogenic rs5030854 GRCh37 Chromosome 12, 103237547: 103237547
49 PAH NM_000277.1(PAH): c.1139C> T (p.Thr380Met) single nucleotide variant Pathogenic/Likely pathogenic rs62642937 GRCh37 Chromosome 12, 103237484: 103237484
50 PAH NM_000277.1(PAH): c.136G> A (p.Gly46Ser) single nucleotide variant Pathogenic rs74603784 GRCh37 Chromosome 12, 103306601: 103306601

Expression for Phenylketonuria

Search GEO for disease gene expression data for Phenylketonuria.

Pathways for Phenylketonuria

Pathways related to Phenylketonuria according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 ACADM BTD G6PD GCH1 HADHA PAH
2
Show member pathways
12.03 ACADM G6PD HADHA PAH
3
Show member pathways
11.72 PAH PCBD1 QDPR SLC7A5
4 11.59 ACADM TH TPH1
5 11.57 ACADM HADHA PAH TH TPH1
6
Show member pathways
11.03 ACADM HADHA
7 10.98 ACADM HADHA
8
Show member pathways
10.78 PAH TH TPH1
9 10.54 GCH1 PTS QDPR
10
Show member pathways
10.43 ACADM HADHA
11 9.85 PAH QDPR

GO Terms for Phenylketonuria

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.23 ACADM BTD G6PD PAH PCBD1 QDPR

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.83 ACADM GCH1 HADHA PAH TPH1
2 fatty acid metabolic process GO:0006631 9.71 ACADM HADHA TH
3 response to organic cyclic compound GO:0014070 9.69 BGLAP G6PD TH
4 response to ethanol GO:0045471 9.67 BGLAP G6PD TH
5 response to zinc ion GO:0010043 9.56 BGLAP TH
6 oxidation-reduction process GO:0055114 9.56 ACADM G6PD HADHA PAH PCBD1 QDPR
7 regulation of nitric-oxide synthase activity GO:0050999 9.55 GCH1 PTS
8 cellular amino acid metabolic process GO:0006520 9.54 PTS QDPR SLC7A5
9 response to immobilization stress GO:0035902 9.52 TH TPH1
10 neurotransmitter biosynthetic process GO:0042136 9.48 PAH TH
11 dopamine biosynthetic process GO:0042416 9.46 GCH1 TH
12 L-phenylalanine catabolic process GO:0006559 9.43 PAH PCBD1 QDPR
13 catecholamine biosynthetic process GO:0042423 9.4 PAH TH
14 aromatic amino acid family metabolic process GO:0009072 9.33 PAH TH TPH1
15 dihydrobiopterin metabolic process GO:0051066 9.32 GCH1 QDPR
16 tetrahydrobiopterin biosynthetic process GO:0006729 8.92 GCH1 PCBD1 PTS QDPR

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.72 ACADM G6PD PCBD1 PTS TTR
2 lyase activity GO:0016829 9.58 HADHA PCBD1 PTS
3 iron ion binding GO:0005506 9.54 PAH TH TPH1
4 oxidoreductase activity GO:0016491 9.5 ACADM G6PD HADHA PAH QDPR TH
5 amino acid binding GO:0016597 9.33 PAH TH TPH1
6 phenylalanine 4-monooxygenase activity GO:0004505 9.26 PAH PCBD1
7 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 8.8 PAH TH TPH1

Sources for Phenylketonuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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