MCID: AMN002
MIFTS: 47

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 44 73
Inborn Errors of Amino Acid Metabolism 12
Disorder of Amino Acid Metabolism 29
Amino Acid Metabolism Disorders 43

Classifications:



External Ids:

Disease Ontology 12 DOID:9252
ICD10 33 E72.9 E72 E72.8
ICD9CM 35 270 270.9
MeSH 44 D000592
NCIt 50 C97090
UMLS 73 C0002514

Summaries for Amino Acid Metabolic Disorder

MedlinePlus : 43 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 Amlodipine and Verapamil have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and brain, 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 105)
# Related Disease Score Top Affiliating Genes
1 cystinuria 32.7 SLC3A1 SLC7A7 SLC7A9
2 alkaptonuria 32.6 FAH HGD
3 cerebral creatine deficiency syndrome 3 32.1 GAMT SLC6A8
4 homocysteinemia 31.5 CBS MMACHC MTHFR MTR
5 homocystinuria 31.5 CBS MMACHC MTHFR MTR
6 glycine n-methyltransferase deficiency 31.2 CBS MTHFR
7 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 30.8 MTHFR MTR
8 hypotonia-cystinuria syndrome 30.8 SLC3A1 SLC7A9
9 organic acidemia 30.4 BCKDHB MMAA MMACHC MUT PCCA PCCB
10 methylmalonic aciduria and homocystinuria, cblc type 29.4 CBS MMACHC MMD MTR
11 inborn amino acid metabolism disorder 12.3
12 aminoacidopathies 11.5
13 cystathioninuria 11.3
14 hyperlysinemia, type i 11.3
15 argininosuccinic aciduria 11.3
16 lysinuric protein intolerance 11.3
17 hartnup disorder 11.3
18 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.3
19 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.3
20 glycine encephalopathy 11.3
21 urea cycle disorder 11.3
22 hydroxykynureninuria 11.2
23 methylmalonyl-coa epimerase deficiency 11.2
24 maternal hyperphenylalaninemia 11.2
25 mild phenylketonuria 11.2
26 phenylketonuria 11.1
27 carnitine deficiency, systemic primary 11.0
28 hyperphenylalaninemia, bh4-deficient, a 11.0
29 brunner syndrome 11.0
30 adenine phosphoribosyltransferase deficiency 11.0
31 hypermethioninemia 11.0
32 2-hydroxyglutaric aciduria 11.0
33 3-methylcrotonyl-coa carboxylase deficiency 11.0
34 serine deficiency 11.0
35 gamma-amino butyric acid metabolism disorder 11.0
36 multiple carboxylase deficiency 11.0
37 histidine metabolism disease 11.0
38 tyrosinemia 11.0
39 lens subluxation 10.6 CBS MTHFR
40 3-hydroxyacyl-coa dehydrogenase deficiency 10.6 FAH HGD PAH
41 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 10.6 MMAA MUT
42 creatine deficiency syndromes 10.5 GAMT SLC6A8
43 cerebral creatine deficiency syndrome 1 10.4 GAMT SLC6A8
44 vitamin metabolic disorder 10.4 MTHFR MTR MUT
45 vitamin b12-responsive methylmalonic acidemia 10.3 MMAA MTR
46 holocarboxylase synthetase deficiency 10.3 MMD MTHFR MUT
47 cerebral creatine deficiency syndrome 2 10.3 GAMT SLC6A8
48 disorders of intracellular cobalamin metabolism 10.3 MMACHC MTR
49 cerebrovascular disease 10.2 CBS MTHFR MTR
50 dicarboxylic aminoaciduria 10.1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 PAH SLC3A1 ALDH5A1 SLC6A8 FAH SLC7A7
2 homeostasis/metabolism MP:0005376 9.83 PCCA SLC3A1 ALDH5A1 SLC6A8 FAH SLC7A7
3 renal/urinary system MP:0005367 9.36 PCCA SLC3A1 ALDH5A1 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 212)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
2
Verapamil Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 52-53-9 2520
3
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
4
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
5
Glycerol Approved, Investigational Phase 4,Phase 3,Phase 2 56-81-5 753
6
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
7
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
8
Enalaprilat Approved Phase 4 76420-72-9 6917719
9
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
10
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
11
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-05-9 143 6006
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-30-3 6037
13
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
14
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
15 tannic acid Approved, Nutraceutical Phase 4
16
Tenofovir Phase 4 147127-20-6 464205
17 calcium channel blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18
protease inhibitors Phase 4
19 Raltegravir Potassium Phase 4
20 Reverse Transcriptase Inhibitors Phase 4
21 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
22 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
23 Hematinics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
24 HIV Integrase Inhibitors Phase 4
25 Cytochrome P-450 CYP3A Inhibitors Phase 4
26 HIV Protease Inhibitors Phase 4
27 Cytochrome P-450 Enzyme Inhibitors Phase 4
28 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
29 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 1
30 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Vasodilator Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Vitamin B Complex Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
33 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Antihypertensive Agents Phase 4,Phase 2,Phase 3,Phase 1
35 Anti-Infective Agents Phase 4,Phase 2,Phase 1,Not Applicable
36 Integrase Inhibitors Phase 4
37 Anti-HIV Agents Phase 4
38 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Anti-Retroviral Agents Phase 4
40 Atazanavir Sulfate Phase 4
41 Antiviral Agents Phase 4,Phase 2,Phase 1,Not Applicable
42 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 4-phenylbutyric acid Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Central Nervous System Depressants Phase 4
45 Serotonin Agents Phase 4
46 Dopamine Agents Phase 4,Phase 2
47 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1,Not Applicable
48 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 diuretics Phase 4
50 Adrenergic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 218)
# Name Status NCT ID Phase Drugs
1 Bone Mineral Density Changes in HIV-positive Females With Osteopenia Switching to Raltegravir Unknown status NCT01902186 Phase 4 raltegravir and atazanavir and ritonavir;tenofovir/emtricitabine and atazanavir and ritonavir
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 Feasibility Study of the Intensive Systolic Blood Pressure Control Enrolling by invitation NCT02817503 Phase 4 Standard BP control;Moderate BP control;Intensive BP control
15 CSPPT- Chronic Kidney Diseases Study Withdrawn NCT01871740 Phase 4 Enalapril maleate and folic acid tablets;Enalapril maleate
16 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Unknown status NCT01390077 Phase 2, Phase 3 Nitisinone
17 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
18 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Unknown status NCT02156427 Phase 3
19 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
20 Effects of Low-dose Complex B-vitamins on Homocysteine and Framingham Risk Score Among Chinese Elderly Completed NCT00755664 Phase 3
21 Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1 Completed NCT02323529 Phase 3 Nitisinone
22 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
23 Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria Completed NCT01732471 Phase 3 Kuvan®
24 Kuvan® in Phenylketonuria Patients Less Than 4 Years Old Completed NCT01376908 Phase 3 Kuvan®
25 Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs) Completed NCT01347073 Phase 3 HPN-100
26 Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients Completed NCT01114737 Phase 3 Sapropterin dihydrochloride;Placebo
27 Efficacy and Safety of HPN-100 for the Treatment of Adults With Urea Cycle Disorders Completed NCT00992459 Phase 3 HPN-100;Buphenyl (NaPBA)
28 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
29 Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 Completed NCT00332189 Phase 3 sapropterin dihydrochloride
30 Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet Completed NCT00272792 Phase 3 Sapropterin Dihydrochloride;Placebo
31 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
32 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
33 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting NCT02426775 Phase 3 Carglumic Acid
34 Suitability of Nitisinone in Alkaptonuria 2 Active, not recruiting NCT01916382 Phase 3 Nitisinone
35 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
36 Phenylbutyrate Therapy for Maple Syrup Urine Disease Active, not recruiting NCT01529060 Phase 2, Phase 3 Phenylbutyrate;Placebo powder
37 Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU Active, not recruiting NCT00838435 Phase 3 sapropterin dihydrochloride
38 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)
39 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
40 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
41 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
42 Dose Response Study of Nitisinone in Alkaptonuria Completed NCT01828463 Phase 2 Nitisinone
43 Long-Term Study of Nitisinone to Treat Alkaptonuria Completed NCT00107783 Phase 2 Nitisinone (NTBC)
44 Study of ORL-1B in Patients With Biotinidase Deficiency Completed NCT03269045 Phase 1, Phase 2 ORL-1B
45 Nitisinone for Type 1B Oculocutaneous Albinism Completed NCT01838655 Phase 1, Phase 2 Nitisinone
46 Trial of L-DOPA as a Treatment to Improve Vision in Albinism Completed NCT01176435 Phase 2 Levodopa;Levodopa;Placebo
47 Betaine METABOLISM OF PATIENTS With Homocystinuria Completed NCT02404337 Phase 2 Betaine
48 A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks Completed NCT01560286 Phase 2
49 Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Completed NCT01765283 Phase 1, Phase 2
50 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 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 29

Anatomical Context for Amino Acid Metabolic Disorder

MalaCards organs/tissues related to Amino Acid Metabolic Disorder:

41
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
[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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ALDH5A1 BCKDHB CBS FAH GAMT HGD
2
Show member pathways
12.52 MMAA MMACHC MTHFR MTR MUT PCCA
3
Show member pathways
12.16 CBS MTHFR MTR MUT
4
Show member pathways
11.91 CBS MTHFR MTR
5
Show member pathways
11.85 BCKDHB MUT PCCA PCCB
6
Show member pathways
11.84 FAH HGD PAH
7
Show member pathways
11.82 CBS MTHFR MTR MUT PAH PCCA
8 11.7 CBS FAH MUT
9
Show member pathways
11.6 FAH HGD PAH
10
Show member pathways
11.52 MMAA MUT PCCA PCCB
11
Show member pathways
11.19 SLC3A1 SLC7A7 SLC7A9
12 11.13 BCKDHB MUT PCCA PCCB
13
Show member pathways
11.11 BCKDHB CBS PCCA
14
Show member pathways
11.07 MMAA MMACHC MTR MUT PCCA PCCB
15 11.06 MUT PCCA PCCB
16 11.02 SLC7A7 SLC7A9
17 10.88 MMAA MMACHC MTR MUT
18
Show member pathways
10.64 PCCA PCCB
19
Show member pathways
10.49 CBS MTHFR
20
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 9.56 ALDH5A1 BCKDHB L2HGDH MMAA MMACHC MUT
2 mitochondrial matrix GO:0005759 9.1 ALDH5A1 BCKDHB MMAA MUT PCCA PCCB

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 oxidation-reduction process GO:0055114 9.92 ALDH5A1 BCKDHB CBS HGD L2HGDH MMACHC
2 metabolic process GO:0008152 9.91 ALDH5A1 BCKDHB CBS FAH MTHFR MUT
3 amino acid transport GO:0006865 9.69 SLC3A1 SLC7A7 SLC7A9
4 cellular amino acid biosynthetic process GO:0008652 9.65 CBS MTR PAH
5 L-phenylalanine catabolic process GO:0006559 9.58 FAH HGD PAH
6 creatine metabolic process GO:0006600 9.57 GAMT SLC6A8
7 biotin metabolic process GO:0006768 9.56 PCCA PCCB
8 cellular amino acid metabolic process GO:0006520 9.56 HGD MTHFR SLC3A1 SLC7A7
9 aromatic amino acid family metabolic process GO:0009072 9.55 FAH PAH
10 S-adenosylmethionine metabolic process GO:0046500 9.54 GAMT MTHFR
11 tyrosine catabolic process GO:0006572 9.52 FAH HGD
12 basic amino acid transmembrane transport GO:1990822 9.49 SLC3A1 SLC7A7
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 9.33 CBS MTHFR MUT
16 cobalamin metabolic process GO:0009235 9.26 MMAA MMACHC MTR MUT
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 oxidoreductase activity GO:0016491 9.7 ALDH5A1 BCKDHB HGD L2HGDH MMACHC MTHFR
2 L-amino acid transmembrane transporter activity GO:0015179 9.4 SLC7A7 SLC7A9
3 basic amino acid transmembrane transporter activity GO:0015174 9.37 SLC3A1 SLC7A7
4 L-cystine transmembrane transporter activity GO:0015184 9.32 SLC3A1 SLC7A9
5 propionyl-CoA carboxylase activity GO:0004658 9.26 PCCA PCCB
6 cobalamin binding GO:0031419 9.13 MMACHC MTR MUT
7 modified amino acid binding GO:0072341 8.8 CBS MTHFR MUT

Sources for Amino Acid Metabolic Disorder

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
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