MCID: AMN002
MIFTS: 38

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 14
Amino Acid Metabolism, Inborn Errors 41 69
Inborn Errors of Amino Acid Metabolism 12
Disorder of Amino Acid Metabolism 28
Amino Acid Metabolism Disorders 40

Classifications:



External Ids:

Disease Ontology 12 DOID:9252
ICD10 32 E72.9 E72 E72.8
ICD9CM 34 270 270.9
MeSH 41 D000592
NCIt 46 C97090
UMLS 69 C0002514

Summaries for Amino Acid Metabolic Disorder

MedlinePlus : 40 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 alkaptonuria and cystinuria. 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 Verapamil and Amlodipine have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are growth/size/body region and homeostasis/metabolism

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 98)
# Related Disease Score Top Affiliating Genes
1 alkaptonuria 32.5 FAH HGD
2 cystinuria 32.5 SLC3A1 SLC7A7 SLC7A9
3 homocysteinemia 31.9 CBS MMACHC MTHFR
4 homocystinuria 31.9 CBS MMACHC MTHFR
5 cerebral creatine deficiency syndrome 3 31.9 GAMT SLC6A8
6 multiple carboxylase deficiency 31.8 PCCA PCCB
7 glycine n-methyltransferase deficiency 30.9 CBS MTHFR
8 organic acidemia 30.8 BCKDHB MMAA MMACHC MUT PCCA PCCB
9 hypotonia-cystinuria syndrome 30.6 SLC3A1 SLC7A9
10 methylmalonic aciduria and homocystinuria, cblc type 30.0 CBS MMACHC MMD
11 inborn amino acid metabolism disorder 12.3
12 cystathioninuria 11.3
13 hyperlysinemia, type i 11.3
14 argininosuccinic aciduria 11.3
15 lysinuric protein intolerance 11.3
16 hartnup disorder 11.3
17 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.3
18 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.3
19 glycine encephalopathy 11.3
20 urea cycle disorder 11.3
21 hydroxykynureninuria 11.2
22 methylmalonyl-coa epimerase deficiency 11.2
23 maternal hyperphenylalaninemia 11.2
24 mild phenylketonuria 11.2
25 phenylketonuria 11.1
26 carnitine deficiency, systemic primary 11.0
27 hyperphenylalaninemia, bh4-deficient, a 11.0
28 brunner syndrome 11.0
29 adenine phosphoribosyltransferase deficiency 11.0
30 hypermethioninemia 11.0
31 2-hydroxyglutaric aciduria 11.0
32 3-methylcrotonyl-coa carboxylase deficiency 11.0
33 serine deficiency 11.0
34 gamma-amino butyric acid metabolism disorder 11.0
35 histidine metabolism disease 11.0
36 tyrosinemia 11.0
37 lens subluxation 10.5 CBS MTHFR
38 vitamin metabolic disorder 10.4 MTHFR MUT
39 creatine deficiency syndromes 10.3 GAMT SLC6A8
40 cerebral creatine deficiency syndrome 1 10.3 GAMT SLC6A8
41 cerebral creatine deficiency syndrome 2 10.2 GAMT SLC6A8
42 succinic semialdehyde dehydrogenase deficiency 10.2
43 holocarboxylase synthetase deficiency 10.1 MMD MTHFR MUT
44 dicarboxylic aminoaciduria 10.1
45 ornithine transcarbamylase deficiency, hyperammonemia due to 10.1
46 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency 10.1
47 hypermethioninemia due to adenosine kinase deficiency 10.1
48 methylmalonic aciduria, cblb type 10.0 MMAA MMACHC MTHFR MUT
49 propionic acidemia 10.0 MMAA MUT PCCA PCCB
50 hawkinsinuria 10.0

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.93 PAH ALDH5A1 SLC3A1 SLC6A8 FAH SLC7A7
2 homeostasis/metabolism MP:0005376 9.83 PAH PCCA ALDH5A1 SLC3A1 SLC6A8 FAH
3 renal/urinary system MP:0005367 9.4 PCCA ALDH5A1 SLC3A1 FAH SLC7A7 GAMT

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 200)
# 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
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
3
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
4
Glycerol Approved, Investigational Phase 4,Phase 3,Phase 2 56-81-5 753
5
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
6
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5362032
7
Enalaprilat Approved Phase 4 76420-72-9 6917719
8
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
9
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-05-9 143 6006
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-30-3 6037
11
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
12
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538
13 tannic acid Approved, Nutraceutical Phase 4
14 calcium channel blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
16 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
17 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18 Hematinics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
19 Vasodilator Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
20 Vitamin B Complex Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
21 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
22 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Antihypertensive Agents Phase 4,Phase 2,Phase 3,Phase 1
24 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 4-phenylbutyric acid Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27
Serotonin Phase 4 50-67-9 5202
28 Central Nervous System Depressants Phase 4
29 Serotonin Agents Phase 4
30 Dopamine Agents Phase 4,Phase 2
31 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1,Not Applicable
32 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 diuretics Phase 4
34
protease inhibitors Phase 4
35 Adrenergic Agents Phase 4
36 Adrenergic Antagonists Phase 4
37 Sodium Chloride Symporter Inhibitors Phase 4
38 Adrenergic beta-Antagonists Phase 4
39 Natriuretic Agents Phase 4
40 HIV Protease Inhibitors Phase 4
41 Angiotensin-Converting Enzyme Inhibitors Phase 4
42 Folate Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 phenylalanine Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Vitamin B9 Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
45
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741 24759
46
Hydroxocobalamin Approved Phase 3,Phase 2,Not Applicable 13422-51-0 5460373 44475014 11953898
47
Hydroquinone Approved, Investigational Phase 3 123-31-9 785
48
Nitisinone Approved, Investigational Phase 3,Phase 2,Phase 1 104206-65-7 115355
49
Metronidazole Approved Phase 3 443-48-1 4173
50
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 3,Phase 2,Not Applicable 13422-55-4

Interventional clinical trials:

(show top 50) (show all 213)

# Name Status NCT ID Phase Drugs
1 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
2 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
3 Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children Completed NCT01766310 Phase 4 Folic Acid;placebo
4 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
5 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
6 Effects of Kuvan on Melatonin Secretion Completed NCT01617070 Phase 4 Kuvan
7 Uremic Hyperhomocysteinemia -A Folate Trial for Possible Prevention of Cardiovascular Events Completed NCT00317005 Phase 4 folate treatment
8 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4 Kuvan®
9 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
10 Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders Recruiting NCT03335488 Phase 4 RAVICTI;NaPBA
11 The Effectiveness of Kuvan in Amish PKU Patients Recruiting NCT02677870 Phase 4 saproterin dihydrochloride
12 Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Active, not recruiting NCT01965912 Phase 4 Kuvan®
13 Feasibility Study of the Intensive Systolic Blood Pressure Control Enrolling by invitation NCT02817503 Phase 4 Standard BP control;Moderate BP control;Intensive BP control
14 CSPPT- Chronic Kidney Diseases Study Withdrawn NCT01871740 Phase 4 Enalapril maleate and folic acid tablets;Enalapril maleate
15 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
16 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Unknown status NCT02156427 Phase 3
17 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
18 Effects of Low-dose Complex B-vitamins on Homocysteine and Framingham Risk Score Among Chinese Elderly Completed NCT00755664 Phase 3
19 Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1 Completed NCT02323529 Phase 3 Nitisinone
20 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
21 Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria Completed NCT01732471 Phase 3 Kuvan®
22 Kuvan® in Phenylketonuria Patients Less Than 4 Years Old Completed NCT01376908 Phase 3 Kuvan®
23 Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs) Completed NCT01347073 Phase 3 HPN-100
24 Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients Completed NCT01114737 Phase 3 Sapropterin dihydrochloride;Placebo
25 Efficacy and Safety of HPN-100 for the Treatment of Adults With Urea Cycle Disorders Completed NCT00992459 Phase 3 HPN-100;Buphenyl (NaPBA)
26 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
27 Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 Completed NCT00332189 Phase 3 sapropterin dihydrochloride
28 Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet Completed NCT00272792 Phase 3 Sapropterin Dihydrochloride;Placebo
29 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
30 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
31 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting NCT02426775 Phase 3 Carglumic Acid
32 Suitability of Nitisinone in Alkaptonuria 2 Active, not recruiting NCT01916382 Phase 3 Nitisinone
33 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Active, not recruiting NCT01390077 Phase 2, Phase 3 Nitisinone
34 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
35 Phenylbutyrate Therapy for Maple Syrup Urine Disease Active, not recruiting NCT01529060 Phase 2, Phase 3 Phenylbutyrate;Placebo powder
36 Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU Active, not recruiting NCT00838435 Phase 3 sapropterin dihydrochloride
37 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)
38 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
39 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
40 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
41 Dose Response Study of Nitisinone in Alkaptonuria Completed NCT01828463 Phase 2 Nitisinone
42 Long-Term Study of Nitisinone to Treat Alkaptonuria Completed NCT00107783 Phase 2 Nitisinone (NTBC)
43 Study of ORL-1B in Patients With Biotinidase Deficiency Completed NCT03269045 Phase 1, Phase 2 ORL-1B
44 Nitisinone for Type 1B Oculocutaneous Albinism Completed NCT01838655 Phase 1, Phase 2 Nitisinone
45 Trial of L-DOPA as a Treatment to Improve Vision in Albinism Completed NCT01176435 Phase 2 Levodopa;Levodopa;Levodopa
46 Betaine METABOLISM OF PATIENTS With Homocystinuria Completed NCT02404337 Phase 2 Betaine
47 A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks Completed NCT01560286 Phase 2
48 Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Completed NCT01765283 Phase 1, Phase 2
49 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
50 Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU) Completed NCT01212744 Phase 2 rAvPAL-PEG

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 28

Anatomical Context for Amino Acid Metabolic Disorder

MalaCards organs/tissues related to Amino Acid Metabolic Disorder:

38
Testes

Publications for Amino Acid Metabolic Disorder

Articles related to Amino Acid Metabolic Disorder:

# Title Authors Year
1
[The dibasic amino acid metabolic disorders]. ( 1404883 )
1992

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 ALDH5A1 BCKDHB CBS FAH GAMT GLDC
2
Show member pathways
12.49 MMAA MMACHC MTHFR MUT PCCA PCCB
3
Show member pathways
11.85 BCKDHB MUT PCCA PCCB
4
Show member pathways
11.84 FAH HGD PAH
5 11.7 CBS FAH MUT
6
Show member pathways
11.7 MMAA MMACHC MUT PCCA PCCB
7
Show member pathways
11.6 FAH HGD PAH
8
Show member pathways
11.49 MMAA MUT PCCA PCCB
9
Show member pathways
11.49 CBS GLDC MTHFR MUT PAH PCCA
10
Show member pathways
11.42 CBS GAMT GLDC
11
Show member pathways
11.19 SLC3A1 SLC7A7 SLC7A9
12
Show member pathways
11.1 BCKDHB CBS PCCA
13 11.06 BCKDHB MUT PCCA PCCB
14 11.02 SLC7A7 SLC7A9
15 10.95 MMAA MMACHC MUT
16 10.9 GLDC MUT PCCA PCCB
17
Show member pathways
10.64 PCCA PCCB
18
Show member pathways
10.49 CBS MTHFR
19
Show member pathways
10.11 MMAA MUT

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 9.61 ALDH5A1 BCKDHB GLDC L2HGDH MMAA MMACHC
2 mitochondrial matrix GO:0005759 9.17 ALDH5A1 BCKDHB GLDC MMAA MUT PCCA

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.91 ALDH5A1 BCKDHB CBS FAH MTHFR MUT
2 oxidation-reduction process GO:0055114 9.81 ALDH5A1 BCKDHB CBS GLDC HGD L2HGDH
3 amino acid transport GO:0006865 9.69 SLC3A1 SLC7A7 SLC7A9
4 cobalamin metabolic process GO:0009235 9.58 MMAA MMACHC MUT
5 amino acid transmembrane transport GO:0003333 9.57 SLC7A7 SLC7A9
6 biotin metabolic process GO:0006768 9.56 PCCA PCCB
7 creatine metabolic process GO:0006600 9.55 GAMT SLC6A8
8 aromatic amino acid family metabolic process GO:0009072 9.54 FAH PAH
9 basic amino acid transmembrane transport GO:1990822 9.52 SLC3A1 SLC7A7
10 L-phenylalanine catabolic process GO:0006559 9.5 FAH HGD PAH
11 S-adenosylmethionine metabolic process GO:0046500 9.49 GAMT MTHFR
12 tyrosine catabolic process GO:0006572 9.48 FAH HGD
13 L-cystine transport GO:0015811 9.46 SLC3A1 SLC7A9
14 cobalamin biosynthetic process GO:0009236 9.43 MMAA MMACHC
15 homocysteine metabolic process GO:0050667 9.43 CBS MTHFR MUT
16 cellular amino acid metabolic process GO:0006520 9.35 GLDC HGD MTHFR SLC3A1 SLC7A7
17 short-chain fatty acid catabolic process GO:0019626 8.92 MMAA MUT PCCA PCCB

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.91 ALDH5A1 CBS GLDC MMAA MMACHC MUT
2 amino acid transmembrane transporter activity GO:0015171 9.5 SLC3A1 SLC7A7 SLC7A9
3 cobalamin binding GO:0031419 9.4 MMACHC MUT
4 basic amino acid transmembrane transporter activity GO:0015174 9.37 SLC3A1 SLC7A7
5 L-cystine transmembrane transporter activity GO:0015184 9.26 SLC3A1 SLC7A9
6 oxidoreductase activity GO:0016491 9.23 ALDH5A1 BCKDHB GLDC HGD L2HGDH MMACHC
7 propionyl-CoA carboxylase activity GO:0004658 9.16 PCCA PCCB
8 modified amino acid binding GO:0072341 9.13 CBS MTHFR MUT

Sources for Amino Acid Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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