MCID: AMN002
MIFTS: 42

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
SNOMED-CT 68 42930003 44779003
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 Ritonavir and Emtricitabine have been mentioned in the context of this disorder. Affiliated tissues include testes and retina, 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 122)
# Related Disease Score Top Affiliating Genes
1 cystinuria 32.5 SLC3A1 SLC7A7 SLC7A9
2 alkaptonuria 32.4 FAH HGD
3 homocystinuria 32.0 CBS MMACHC MTHFR
4 homocysteinemia 31.9 CBS MMACHC MTHFR
5 cerebral creatine deficiency syndrome 3 31.9 GAMT SLC6A8
6 organic acidemia 31.5 BCKDHB MMAA MMACHC PCCA PCCB
7 cerebral creatine deficiency syndrome 1 30.6 GAMT SLC6A8
8 hypotonia-cystinuria syndrome 30.6 SLC3A1 SLC7A9
9 cerebral creatine deficiency syndrome 2 30.6 GAMT SLC6A8
10 methylmalonic aciduria and homocystinuria, cblc type 30.1 CBS MMACHC MMD SLC22A5
11 inborn amino acid metabolism disorder 12.4
12 aminoacidopathies 11.6
13 hyperlysinemia, type i 11.5
14 argininosuccinic aciduria 11.5
15 cystathioninuria 11.5
16 lysinuric protein intolerance 11.5
17 hartnup disorder 11.5
18 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 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 11.1
28 hyperphenylalaninemia, bh4-deficient, a 11.1
29 brunner syndrome 11.1
30 adenine phosphoribosyltransferase deficiency 11.1
31 hypermethioninemia 11.1
32 2-hydroxyglutaric aciduria 11.1
33 3-methylcrotonyl-coa carboxylase deficiency 11.1
34 serine deficiency 11.1
35 gamma-amino butyric acid metabolism disorder 11.1
36 multiple carboxylase deficiency 11.1
37 histidine metabolism disease 11.1
38 tyrosinemia 11.1
39 prolidase deficiency 10.3
40 glutathionuria 10.3
41 homocarnosinosis 10.3
42 l-2-hydroxyglutaric aciduria 10.3
43 malonyl-coa decarboxylase deficiency 10.3
44 5-oxoprolinase deficiency 10.3
45 succinic semialdehyde dehydrogenase deficiency 10.3
46 hsd10 mitochondrial disease 10.3
47 d-2-hydroxyglutaric aciduria 1 10.3
48 phosphoglycerate dehydrogenase deficiency 10.3
49 hyperinsulinemic hypoglycemia, familial, 6 10.3
50 aminoacylase 1 deficiency 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.93 ALDH5A1 FAH GAMT HGD MMACHC MMUT
2 homeostasis/metabolism MP:0005376 9.83 ALDH5A1 FAH GAMT HGD L2HGDH MMACHC
3 renal/urinary system MP:0005367 9.44 ALDH5A1 FAH GAMT HGD MMACHC MMUT

Drugs & Therapeutics for Amino Acid Metabolic Disorder

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
2
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
3
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
4 HIV Integrase Inhibitors Phase 4
5 Integrase Inhibitors Phase 4
6 Anti-HIV Agents Phase 4
7 Reverse Transcriptase Inhibitors Phase 4
8 HIV Protease Inhibitors Phase 4
9 Raltegravir Potassium Phase 4
10 Cytochrome P-450 Enzyme Inhibitors Phase 4
11 Antiviral Agents Phase 4
12 Anti-Retroviral Agents Phase 4
13 Cytochrome P-450 CYP3A Inhibitors Phase 4
14 Nucleic Acid Synthesis Inhibitors Phase 4
15 Atazanavir Sulfate Phase 4
16 Anti-Infective Agents Phase 4
17
protease inhibitors Phase 4
18 Vitamins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Amino Acids Expression Profiling of Patients With Sepsis Unknown status NCT01818830
3 Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol Completed NCT02322177

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, Retina

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

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 ALDH5A1 BCKDHB CBS FAH GAMT HGD
2
Show member pathways
12.45 MMAA MMACHC MMUT MTHFR PCCA PCCB
3
Show member pathways
11.85 BCKDHB MMUT PCCA PCCB
4
Show member pathways
11.83 FAH HGD PAH
5
Show member pathways
11.76 CBS MMUT MTHFR PAH PCCA PCCB
6 11.69 CBS FAH MMUT
7
Show member pathways
11.6 FAH HGD PAH
8
Show member pathways
11.44 MMAA MMUT PCCA PCCB
9
Show member pathways
11.19 SLC3A1 SLC7A7 SLC7A9
10 11.11 MMUT PCCA PCCB
11
Show member pathways
11.09 BCKDHB CBS PCCA
12 11.01 SLC7A7 SLC7A9
13
Show member pathways
10.99 MMAA MMACHC MMUT PCCA PCCB
14 10.96 BCKDHB MMUT PCCA PCCB
15 10.9 MMAA MMACHC MMUT
16
Show member pathways
10.63 PCCA PCCB
17 10.43 CBS MTHFR
18
Show member pathways
10.11 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 amino acid transport GO:0006865 9.67 SLC3A1 SLC7A7 SLC7A9
2 oxidation-reduction process GO:0055114 9.56 ALDH5A1 BCKDHB CBS HGD L2HGDH MMACHC
3 creatine metabolic process GO:0006600 9.55 GAMT SLC6A8
4 aromatic amino acid family metabolic process GO:0009072 9.54 FAH PAH
5 cobalamin metabolic process GO:0009235 9.54 MMAA MMACHC MMUT
6 biotin metabolic process GO:0006768 9.52 PCCA PCCB
7 S-adenosylmethionine metabolic process GO:0046500 9.51 GAMT MTHFR
8 L-alpha-amino acid transmembrane transport GO:1902475 9.5 SLC3A1 SLC7A7 SLC7A9
9 tyrosine catabolic process GO:0006572 9.48 FAH HGD
10 basic amino acid transmembrane transport GO:1990822 9.46 SLC3A1 SLC7A7
11 cellular amino acid metabolic process GO:0006520 9.46 HGD MTHFR SLC3A1 SLC7A7
12 L-cystine transport GO:0015811 9.43 SLC3A1 SLC7A9
13 L-phenylalanine catabolic process GO:0006559 9.43 FAH HGD PAH
14 cobalamin biosynthetic process GO:0009236 9.4 MMAA MMACHC
15 homocysteine metabolic process GO:0050667 8.8 CBS 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 oxidoreductase activity GO:0016491 9.5 ALDH5A1 BCKDHB HGD L2HGDH 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 L-cystine transmembrane transporter activity GO:0015184 9.26 SLC3A1 SLC7A9
7 propionyl-CoA carboxylase activity GO:0004658 9.16 PCCA PCCB
8 modified amino acid binding GO:0072341 8.8 CBS MMUT MTHFR

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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