MCID: AMN002
MIFTS: 40

Amino Acid Metabolic Disorder

Categories: Genetic diseases, 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 43 71
Inborn Errors of Amino Acid Metabolism 12
Disorder of Amino Acid Metabolism 29
Amino Acid Metabolism Disorders 42

Classifications:



External Ids:

Disease Ontology 12 DOID:9252
ICD9CM 34 270 270.9
MeSH 43 D000592
NCIt 49 C97090
SNOMED-CT 67 42930003 44779003
ICD10 32 E72 E72.8 E72.9
UMLS 71 C0002514

Summaries for Amino Acid Metabolic Disorder

MedlinePlus : 42 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 phenylketonuria and lysinuric protein intolerance. An important gene associated with Amino Acid Metabolic Disorder is PRODH (Proline Dehydrogenase 1), and among its related pathways/superpathways are Viral mRNA Translation and Metabolism. The drugs Metronidazole and Biotin have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and kidney, 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 174)
# Related Disease Score Top Affiliating Genes
1 phenylketonuria 33.8 PAH MTR MTHFR
2 lysinuric protein intolerance 33.6 SLC7A7 SLC3A1 PRODH
3 alkaptonuria 33.6 PRODH PAH HGD FAH
4 homocystinuria 33.4 MTR MTHFR MMACHC
5 tyrosinemia 33.3 PAH HGD FAH
6 cystinuria 33.3 SLC7A9 SLC7A7 SLC3A1 PRODH
7 urea cycle disorder 33.1 SLC7A7 SLC6A8 PRODH PAH MMD FAH
8 3-methylcrotonyl-coa carboxylase deficiency 32.8 PCCB MMD MMAA
9 multiple carboxylase deficiency 32.8 PCCB MMD H2AC18
10 histidine metabolism disease 32.8 PRODH BCKDHB
11 homocysteinemia 32.8 MTR MTHFR MMACHC
12 cerebral creatine deficiency syndrome 3 32.8 SLC6A8 GAMT
13 cerebral creatine deficiency syndrome 32.7 SLC6A8 GAMT
14 organic acidemia 32.4 PRODH PCCB MTR MMD MMACHC MMAA
15 gamma-amino butyric acid metabolism disorder 32.2 PRODH ALDH5A1
16 argininemia 32.1 SLC7A7 PRODH PAH
17 creatine deficiency syndromes 31.6 SLC6A8 GAMT
18 cerebral creatine deficiency syndrome 1 31.5 SLC6A8 GAMT
19 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 31.4 MTR MTHFR
20 inherited metabolic disorder 31.4 SLC3A1 PRODH PAH MTHFR MMD H2AC18
21 cerebral creatine deficiency syndrome 2 31.4 SLC6A8 GAMT
22 tyrosinemia, type ii 31.4 HGD FAH
23 tyrosinemia, type i 31.4 MMD HGD FAH
24 tyrosinemia, type iii 31.4 HGD FAH
25 maple syrup urine disease 30.8 PRODH PCCB PAH MMD MMAA BCKDHB
26 intermediate maple syrup urine disease 30.7 BCKDHB BCKDHA
27 methylmalonic acidemia 30.6 PRODH PCCB MTR MTHFR MMD MMACHC
28 propionic acidemia 30.5 PCCB PAH MMD MMAA BCKDHB
29 inborn amino acid metabolism disorder 12.5
30 disorder of methionine cycle and sulfur amino acid metabolism 11.9
31 argininosuccinic aciduria 11.8
32 glycine encephalopathy 11.8
33 hawkinsinuria 11.6
34 2-aminoadipic 2-oxoadipic aciduria 11.6
35 cystathioninuria 11.6
36 hartnup disorder 11.6
37 hyperlysinemia, type i 11.6
38 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.6
39 brunner syndrome 11.6
40 hydroxykynureninuria 11.5
41 methylmalonyl-coa epimerase deficiency 11.5
42 maternal hyperphenylalaninemia 11.5
43 prolidase deficiency 11.3
44 carnitine deficiency, systemic primary 11.3
45 glutathionuria 11.3
46 pentosuria 11.3
47 hyperphenylalaninemia, bh4-deficient, a 11.3
48 fumarase deficiency 11.3
49 adenine phosphoribosyltransferase deficiency 11.3
50 hypermethioninemia 11.3

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10 ALDH5A1 BCKDHA CBSL FAH GAMT HGD
2 homeostasis/metabolism MP:0005376 9.83 ALDH5A1 BCKDHA CBSL FAH GAMT HGD
3 renal/urinary system MP:0005367 9.36 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 all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metronidazole Approved Phase 3 443-48-1 4173
2
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
3 carnitine Phase 3
4 Vitamin B7 Phase 3
5
Phenylacetic acid Approved Phase 2 103-82-2 999
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
carbamide peroxide Approved Phase 2 124-43-6
8
Nitric Oxide Approved Phase 2 10102-43-9 145068
9
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
10 Anti-Infective Agents Phase 2
11 4-phenylbutyric acid Phase 2
12 Sodium Benzoate Phase 2
13 Antifungal Agents Phase 2
14 Antimetabolites Phase 2
15 Liver Extracts Phase 2
16
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
17
Ornithine Approved, Nutraceutical Phase 1 70-26-8, 3184-13-2 6262
18 Dihydroxyphenylalanine Phase 1
19 Antiparkinson Agents Phase 1
20 Dopa Decarboxylase Phase 1
21
Molybdenum Approved 7439-98-7 185498
22
Methylcobalamin Approved, Investigational 13422-55-4
23
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
24
Methionine Approved, Nutraceutical 63-68-3 6137
25
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
26
Cobalamin Experimental 13408-78-1 6857388
27 Nutrients
28 Trace Elements
29 Micronutrients
30 Lecithin
31 Vitamins
32 Vitamin B 12
33 Vitamin B Complex
34 Vitamin B12

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness of the Use of Carbaglu® in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA) Completed NCT02426775 Phase 3 Carglumic Acid
2 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
3 A Randomized, Double-Blind, Crossover Study of Sodium Phenylbutyrate and Low-Dose Arginine Compared to High-Dose Arginine Alone on Liver Function, Ureagenesis and Subsequent Nitric Oxide Production in Patients With Argininosuccinic Aciduria Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
4 A Global, Phase 1/2, Open Label, Dose Escalation Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia Due to Methylmalonyl-CoA Mutase Deficiency Recruiting NCT03810690 Phase 1, Phase 2
5 A Global, Phase 1/2, Open-label, Dose Escalation Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3927 in Participants With Propionic Acidemia Not yet recruiting NCT04159103 Phase 1, Phase 2
6 A Phase 2 Study of Ataluren (PTC124®) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia Terminated NCT01141075 Phase 2 Ataluren (PTC124)
7 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
8 Therapeutic and Metabolic Studies of Urea Cycle Disorders: Part A: Nitrogen Flux and Ureagenesis; Part B (Closed): Phase I Adenovirus Vector-Mediated Gene Therapy for Ornithine Transcarbamylase Deficiency Unknown status NCT00004307 Phase 1
9 SIngle-Stage, Open-Label, Safety and Efficacy Study of Adeno-Associated Virus Encoding Human Aromatic L-Amino Acid Decarboxylase by Magnetic Resonance MR-guided Infusion Into Midbrain in Pediatric Patients With AADC Deficiency Recruiting NCT02852213 Phase 1 AAV2-hAADC
10 Review of French Cases of Glutathione Synthetase Deficiency Unknown status NCT02830867
11 Amino Acids Expression Profiling of Patients With Sepsis Unknown status NCT01818830
12 A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies Completed NCT01735188
13 Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency Completed NCT02399761
14 Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency Completed NCT00006061 phosphatidylcholine
15 PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT00246870
16 Cortical Excitability in Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT00132366
17 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315
18 Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders Recruiting NCT00078078

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:

40
Testes, Liver, Kidney, Retina, Placenta

Publications for Amino Acid Metabolic Disorder

Articles related to Amino Acid Metabolic Disorder:

# Title Authors PMID Year
1
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain. 42
31574857 2019
2
Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review. 42
31574870 2019
3
Ochronotic arthritis and ochronotic Achilles tendon rupture in alkaptonuria: A 6 years follow-up case report in China. 42
31441856 2019
4
Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke. 61
24138954 2014
5
[Manifold reflection infrared spectroscopy of the hair of mice with an experimental amino acid metabolism disease (L-acetidin-2-carboxylic acid incorporation instead of proline). A model for the use of infrared spectroscopy as a screening method for metabolic diseases]. 61
6868733 1983
6
[Amino acid metabolic disorder in kidney failure (a review of the literature)]. 61
6818768 1982
7
[Detection of amino acid metabolism inborn errors in neonatal age]. 61
4848445 1974

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 SLC6A8 PRODH PAH MTR HGD GAMT
2
Show member pathways
13.15 SLC6A8 PRODH PCCB PAH MTR MTHFR
3
Show member pathways
12.46 PCCB MTR MTHFR MMACHC MMAA
4
Show member pathways
11.76 PCCB BCKDHB BCKDHA
5
Show member pathways
11.76 PRODH PAH HGD FAH
6
Show member pathways
11.68 PCCB PAH MTR MTHFR CBSL
7
Show member pathways
11.53 PAH HGD FAH
8
Show member pathways
11.53 PCCB MTR MMACHC MMAA
9 11.11 PCCB BCKDHB BCKDHA
10
Show member pathways
11.02 SLC7A9 SLC7A7 SLC3A1
11 10.65 MTR MMACHC MMAA
12
Show member pathways
10.49 BCKDHB BCKDHA

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 mitochondrial matrix GO:0005759 9.1 PRODH PCCB MMAA BCKDHB BCKDHA ALDH5A1
2 mitochondrial alpha-ketoglutarate dehydrogenase complex GO:0005947 8.96 BCKDHB BCKDHA

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 amino acid transport GO:0006865 9.65 SLC7A9 SLC7A7 SLC3A1
2 branched-chain amino acid catabolic process GO:0009083 9.56 BCKDHB BCKDHA
3 L-alpha-amino acid transmembrane transport GO:1902475 9.55 SLC7A9 SLC7A7
4 methionine biosynthetic process GO:0009086 9.54 MTR MTHFR
5 cellular amino acid biosynthetic process GO:0008652 9.54 PAH MTR CBSL
6 aromatic amino acid family metabolic process GO:0009072 9.52 PAH FAH
7 homocysteine metabolic process GO:0050667 9.51 MTHFR CBSL
8 creatine metabolic process GO:0006600 9.49 SLC6A8 GAMT
9 basic amino acid transmembrane transport GO:1990822 9.46 SLC7A7 SLC3A1
10 short-chain fatty acid catabolic process GO:0019626 9.43 PCCB MMAA
11 tyrosine catabolic process GO:0006572 9.4 HGD FAH
12 cobalamin metabolic process GO:0009235 9.33 MTR MMACHC MMAA
13 L-cystine transport GO:0015811 9.32 SLC7A9 SLC3A1
14 cobalamin biosynthetic process GO:0009236 9.26 MMACHC MMAA
15 oxidation-reduction process GO:0055114 9.23 PRODH PAH MTHFR MMACHC HGD BCKDHB
16 L-phenylalanine catabolic process GO:0006559 9.13 PAH HGD FAH

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

# Name GO ID Score Top Affiliating Genes
1 L-amino acid transmembrane transporter activity GO:0015179 9.43 SLC7A9 SLC7A7
2 FAD binding GO:0071949 9.43 PRODH MTHFR MMACHC
3 cobalamin binding GO:0031419 9.4 MTR MMACHC
4 basic amino acid transmembrane transporter activity GO:0015174 9.37 SLC7A7 SLC3A1
5 L-cystine transmembrane transporter activity GO:0015184 9.32 SLC7A9 SLC3A1
6 oxidoreductase activity GO:0016491 9.23 PRODH PAH MTHFR MMACHC HGD BCKDHB
7 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 9.16 BCKDHB BCKDHA
8 alpha-ketoacid dehydrogenase activity GO:0003826 8.96 BCKDHB BCKDHA

Sources for Amino Acid Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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