MCID: AMN002
MIFTS: 49

Amino Acid Metabolic Disorder

Categories: Metabolic diseases

Aliases & Classifications for Amino Acid Metabolic Disorder

MalaCards integrated aliases for Amino Acid Metabolic Disorder:

Name: Amino Acid Metabolic Disorder 12 15
Amino Acid Metabolism, Inborn Errors 45 74
Inborn Errors of Amino Acid Metabolism 12
Disorder of Amino Acid Metabolism 30
Amino Acid Metabolism Disorders 44

Classifications:



External Ids:

Disease Ontology 12 DOID:9252
ICD9CM 36 270 270.9
MeSH 45 D000592
NCIt 51 C97090
SNOMED-CT 69 42930003 44779003
ICD10 34 E72 E72.8 E72.9
UMLS 74 C0002514

Summaries for Amino Acid Metabolic Disorder

MedlinePlus : 44 Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body. If you have a metabolic disorder, something goes wrong with this process. One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems. These disorders are usually inherited. A baby who is born with one may not have any symptoms right away. Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests. Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if there are complications.

MalaCards based summary : Amino Acid Metabolic Disorder, also known as amino acid metabolism, inborn errors, is related to cystinuria and alkaptonuria. An important gene associated with Amino Acid Metabolic Disorder is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Enalapril and Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and brain, and related phenotypes are homeostasis/metabolism and growth/size/body region

Disease Ontology : 12 An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.

Related Diseases for Amino Acid Metabolic Disorder

Diseases related to Amino Acid Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 cystinuria 32.6 SLC3A1 SLC7A7 SLC7A9
2 alkaptonuria 32.5 FAH HGD
3 cerebral creatine deficiency syndrome 32.1 GAMT SLC6A8
4 cerebral creatine deficiency syndrome 3 32.1 GAMT SLC6A8
5 multiple carboxylase deficiency 31.9 PCCA PCCB
6 organic acidemia 31.5 BCKDHB MMAA MMACHC PCCA PCCB
7 cerebral creatine deficiency syndrome 1 30.9 GAMT SLC6A8
8 cerebral creatine deficiency syndrome 2 30.8 GAMT SLC6A8
9 hypotonia-cystinuria syndrome 30.4 SLC3A1 SLC7A9
10 methylmalonic aciduria and homocystinuria, cblc type 30.2 MMACHC MMD SLC22A5
11 inborn amino acid metabolism disorder 12.5
12 aminoacidopathies 11.6
13 argininosuccinic aciduria 11.5
14 cystathioninuria 11.5
15 lysinuric protein intolerance 11.5
16 hartnup disorder 11.5
17 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.5
18 hyperlysinemia, type i 11.5
19 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.5
20 glycine encephalopathy 11.5
21 urea cycle disorder 11.5
22 hydroxykynureninuria 11.4
23 methylmalonyl-coa epimerase deficiency 11.4
24 maternal hyperphenylalaninemia 11.4
25 mild phenylketonuria 11.4
26 phenylketonuria 11.3
27 carnitine deficiency, systemic primary 11.2
28 hyperphenylalaninemia, bh4-deficient, a 11.2
29 brunner syndrome 11.2
30 homocysteinemia 11.2
31 adenine phosphoribosyltransferase deficiency 11.2
32 hypermethioninemia 11.2
33 2-hydroxyglutaric aciduria 11.2
34 3-methylcrotonyl-coa carboxylase deficiency 11.2
35 serine deficiency 11.2
36 adenylosuccinase lyase deficiency 11.2
37 gamma-amino butyric acid metabolism disorder 11.2
38 homocystinuria 11.2
39 histidine metabolism disease 11.2
40 tyrosinemia 11.2
41 prolidase deficiency 10.3
42 glutathionuria 10.3
43 l-2-hydroxyglutaric aciduria 10.3
44 malonyl-coa decarboxylase deficiency 10.3
45 5-oxoprolinase deficiency 10.3
46 succinic semialdehyde dehydrogenase deficiency 10.3
47 hsd10 mitochondrial disease 10.3
48 d-2-hydroxyglutaric aciduria 1 10.3
49 phosphoglycerate dehydrogenase deficiency 10.3
50 hyperinsulinemic hypoglycemia, familial, 6 10.3

Graphical network of the top 20 diseases related to Amino Acid Metabolic Disorder:



Diseases related to Amino Acid Metabolic Disorder

Symptoms & Phenotypes for Amino Acid Metabolic Disorder

MGI Mouse Phenotypes related to Amino Acid Metabolic Disorder:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 ALDH5A1 CBSL FAH GAMT HGD L2HGDH
2 growth/size/body region MP:0005378 10.13 ALDH5A1 CBSL FAH GAMT HGD MMACHC
3 behavior/neurological MP:0005386 10.07 ALDH5A1 CBSL FAH GAMT L2HGDH MMUT
4 mortality/aging MP:0010768 9.73 ALDH5A1 CBSL FAH GAMT MMACHC MMUT
5 liver/biliary system MP:0005370 9.7 CBSL FAH HGD MMUT MTHFR PCCA
6 renal/urinary system MP:0005367 9.47 ALDH5A1 CBSL FAH GAMT HGD MMACHC

Drugs & Therapeutics for Amino Acid Metabolic Disorder

Drugs for Amino Acid Metabolic Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 229)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
2
Enalaprilat Approved Phase 4 76420-72-9 6917719
3
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
4
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
5
leucovorin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-05-9 6006 143
6
carbamide peroxide Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 124-43-6
7
Verapamil Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 52-53-9 2520
8
Glycerol Approved, Investigational Phase 4,Phase 3,Phase 2 56-81-5 753
9
Dopamine Approved Phase 4,Phase 2 62-31-7, 51-61-6 681
10
tannic acid Approved Phase 4,Phase 3 1401-55-4
11
Benzocaine Approved, Investigational Phase 4,Phase 3 94-09-7, 1994-09-7 2337
12
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
13
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
14
Calcium Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7440-70-2 271
15
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-30-3 6037
16
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
17
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
18
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
19 Adrenergic Antagonists Phase 4
20 Vasodilator Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
21 Adrenergic beta-Antagonists Phase 4
22 Hematinics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
23 HIV Protease Inhibitors Phase 4
24 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Natriuretic Agents Phase 4
26 Nutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
27
protease inhibitors Phase 4
28 Vitamin B Complex Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
29 Angiotensin-Converting Enzyme Inhibitors Phase 4
30 calcium channel blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
31 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
32 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
33 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Vitamin B9 Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Adrenergic Agents Phase 4
37 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
38 Folate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Antihypertensive Agents Phase 4,Phase 2,Phase 3,Phase 1
40 diuretics Phase 4
41 Sodium Chloride Symporter Inhibitors Phase 4
42 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 phenylalanine Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
45 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1,Not Applicable
46 4-phenylbutyric acid Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Serotonin Agents Phase 4
48 Serotonin Receptor Agonists Phase 4
49 Central Nervous System Depressants Phase 4
50 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 237)
# Name Status NCT ID Phase Drugs
1 Feasibility Study of the Intensive Systolic Blood Pressure Control Unknown status NCT02817503 Phase 4 Standard BP control;Moderate BP control;Intensive BP control
2 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
3 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
4 Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children Completed NCT01766310 Phase 4 Folic Acid;placebo
5 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
6 A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders Completed NCT02246218 Phase 4 RAVICTI
7 Effects of Kuvan on Melatonin Secretion Completed NCT01617070 Phase 4 Kuvan
8 Uremic Hyperhomocysteinemia -A Folate Trial for Possible Prevention of Cardiovascular Events Completed NCT00317005 Phase 4 folate treatment
9 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4 Kuvan®
10 To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs) Completed NCT01257737 Phase 4 HPN-100
11 Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders Recruiting NCT03335488 Phase 4 RAVICTI;NaPBA
12 The Effectiveness of Kuvan in Amish PKU Patients Recruiting NCT02677870 Phase 4 saproterin dihydrochloride
13 Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Active, not recruiting NCT01965912 Phase 4 Kuvan®
14 Phenylalanine and Its Impact on Cognition Not yet recruiting NCT03788343 Phase 4 Placebo
15 Bone Mineral Density Changes in HIV-positive Females With Osteopenia Switching to Raltegravir Terminated NCT01902186 Phase 4 raltegravir and atazanavir and ritonavir;tenofovir/emtricitabine and atazanavir and ritonavir
16 CSPPT- Chronic Kidney Diseases Study Withdrawn NCT01871740 Phase 4 Enalapril maleate and folic acid tablets;Enalapril maleate
17 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Unknown status NCT01390077 Phase 2, Phase 3 Nitisinone
18 Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine Unknown status NCT01848873 Phase 2, Phase 3 Amlodipine;amlodipine-FA tablet, low dose group;amlodipine-FA tablet ,high dose group
19 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Unknown status NCT02156427 Phase 3
20 The Effects of 8-week Choline, Betaine, and Folic Acid Supplementation on Plasma Homocysteine Concentration During Guanidinoacetic Acid Loading in Young Healthy Volunteers Completed NCT01371357 Phase 3 TEST 1;TEST 2;TEST 3;TEST 4
21 Effects of Low-dose Complex B-vitamins on Homocysteine and Framingham Risk Score Among Chinese Elderly Completed NCT00755664 Phase 3
22 Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1 Completed NCT02323529 Phase 3 Nitisinone
23 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
24 Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria Completed NCT01732471 Phase 3 Kuvan®
25 Phenylbutyrate Therapy for Maple Syrup Urine Disease Completed NCT01529060 Phase 2, Phase 3 Phenylbutyrate;Placebo powder
26 Kuvan® in Phenylketonuria Patients Less Than 4 Years Old Completed NCT01376908 Phase 3 Kuvan®
27 Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs) Completed NCT01347073 Phase 3 HPN-100
28 Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients Completed NCT01114737 Phase 3 Sapropterin dihydrochloride;Placebo
29 Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU Completed NCT00838435 Phase 3 sapropterin dihydrochloride
30 Efficacy and Safety of HPN-100 for the Treatment of Adults With Urea Cycle Disorders Completed NCT00992459 Phase 3 HPN-100;Buphenyl (NaPBA)
31 Study of the Safety of HPN (Hyperion)-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD) Completed NCT00947297 Phase 3 HPN-100
32 Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 Completed NCT00332189 Phase 3 sapropterin dihydrochloride
33 Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet Completed NCT00272792 Phase 3 Sapropterin Dihydrochloride;Placebo
34 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
35 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
36 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting NCT02426775 Phase 3 Carglumic Acid
37 Suitability of Nitisinone in Alkaptonuria 2 Active, not recruiting NCT01916382 Phase 3 Nitisinone
38 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
39 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
40 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)
41 A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion Unknown status NCT02926066 Phase 2 AAV2-hAADC
42 Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002) Unknown status NCT02489292 Phase 2
43 Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003) Unknown status NCT00924703 Phase 2 rAvPAL-PEG
44 Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders Completed NCT00004767 Phase 2 Sodium Benzoate;Sodium Phenylacetate;Sodium Phenylbutyrate
45 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
46 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
47 Dose Response Study of Nitisinone in Alkaptonuria Completed NCT01828463 Phase 2 Nitisinone
48 Long-Term Study of Nitisinone to Treat Alkaptonuria Completed NCT00107783 Phase 2 Nitisinone (NTBC)
49 Study of ORL-1B in Patients With Biotinidase Deficiency Completed NCT03269045 Phase 1, Phase 2 ORL-1B
50 Effectiveness of a Micronutrient Supplement to Lower Plasma Homocysteine MDEG2 Pilot Supplementation Trial Completed NCT03431597 Phase 2

Search NIH Clinical Center for Amino Acid Metabolic Disorder

Cochrane evidence based reviews: amino acid metabolism, inborn errors

Genetic Tests for Amino Acid Metabolic Disorder

Genetic tests related to Amino Acid Metabolic Disorder:

# Genetic test Affiliating Genes
1 Disorder of Amino Acid Metabolism 30

Anatomical Context for Amino Acid Metabolic Disorder

MalaCards organs/tissues related to Amino Acid Metabolic Disorder:

42
Testes, Liver, Brain, Bone, Endothelial, Kidney, Bone Marrow

Publications for Amino Acid Metabolic Disorder

Articles related to Amino Acid Metabolic Disorder:

# Title Authors Year
1
Dietary management of inborn errors of amino acid metabolism with protein-modified diets. ( 1588021 )
1992
2
Nutrition support of inborn errors of amino acid metabolism. ( 3840460 )
1985
3
Inborn errors of amino acid metabolism and hereditary ataxia. ( 735926 )
1978
4
The pathogenesis of mental retardation in phenylketonuria and other inborn errors of amino acid metabolism. ( 5335144 )
1967

Variations for Amino Acid Metabolic Disorder

Expression for Amino Acid Metabolic Disorder

Search GEO for disease gene expression data for Amino Acid Metabolic Disorder.

Pathways for Amino Acid Metabolic Disorder

Pathways related to Amino Acid Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 ALDH5A1 BCKDHB CBSL FAH GAMT HGD
2
Show member pathways
12.45 MMAA MMACHC MMUT MTHFR PCCA PCCB
3
Show member pathways
11.83 BCKDHB MMUT PCCA PCCB
4
Show member pathways
11.79 FAH HGD PAH
5
Show member pathways
11.76 CBSL MMUT MTHFR PAH PCCA PCCB
6
Show member pathways
11.57 FAH HGD PAH
7
Show member pathways
11.44 MMAA MMUT PCCA PCCB
8
Show member pathways
11.17 SLC3A1 SLC7A7 SLC7A9
9 11.09 MMUT PCCA PCCB
10
Show member pathways
10.99 MMAA MMACHC MMUT PCCA PCCB
11 10.97 SLC7A7 SLC7A9
12
Show member pathways
10.96 BCKDHB PCCA
13 10.96 BCKDHB MMUT PCCA PCCB
14 10.9 MMAA MMACHC MMUT
15
Show member pathways
10.1 MMAA MMUT

GO Terms for Amino Acid Metabolic Disorder

Cellular components related to Amino Acid Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 ALDH5A1 BCKDHB L2HGDH MMAA MMUT PCCA
2 brush border membrane GO:0031526 9.13 SLC22A5 SLC3A1 SLC7A9
3 mitochondrial matrix GO:0005759 9.1 ALDH5A1 BCKDHB MMAA MMUT PCCA PCCB

Biological processes related to Amino Acid Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.91 ALDH5A1 BCKDHB HGD L2HGDH MMACHC MTHFR
2 amino acid transport GO:0006865 9.67 SLC3A1 SLC7A7 SLC7A9
3 creatine metabolic process GO:0006600 9.55 GAMT SLC6A8
4 aromatic amino acid family metabolic process GO:0009072 9.54 FAH PAH
5 biotin metabolic process GO:0006768 9.52 PCCA PCCB
6 S-adenosylmethionine metabolic process GO:0046500 9.51 GAMT MTHFR
7 cobalamin metabolic process GO:0009235 9.5 MMAA MMACHC MMUT
8 tyrosine catabolic process GO:0006572 9.48 FAH HGD
9 basic amino acid transmembrane transport GO:1990822 9.46 SLC3A1 SLC7A7
10 L-cystine transport GO:0015811 9.43 SLC3A1 SLC7A9
11 cobalamin biosynthetic process GO:0009236 9.4 MMAA MMACHC
12 L-phenylalanine catabolic process GO:0006559 9.33 FAH HGD PAH
13 L-alpha-amino acid transmembrane transport GO:1902475 9.26 SLC7A7 SLC7A9
14 cellular amino acid metabolic process GO:0006520 9.26 HGD MTHFR SLC3A1 SLC7A7
15 homocysteine metabolic process GO:0050667 8.8 CBSL MMUT MTHFR

Molecular functions related to Amino Acid Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.61 SLC22A5 SLC7A7 SLC7A9
2 FAD binding GO:0071949 9.46 MMACHC MTHFR
3 L-amino acid transmembrane transporter activity GO:0015179 9.4 SLC7A7 SLC7A9
4 cobalamin binding GO:0031419 9.37 MMACHC MMUT
5 basic amino acid transmembrane transporter activity GO:0015174 9.32 SLC3A1 SLC7A7
6 modified amino acid binding GO:0072341 9.26 MMUT MTHFR
7 oxidoreductase activity GO:0016491 9.17 ALDH5A1 BCKDHB HGD L2HGDH MMACHC MTHFR
8 L-cystine transmembrane transporter activity GO:0015184 9.16 SLC3A1 SLC7A9
9 propionyl-CoA carboxylase activity GO:0004658 8.96 PCCA PCCB

Sources for Amino Acid Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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