MCID: AMN002
MIFTS: 22

Amino Acid Metabolic Disorder malady

Metabolic diseases category

Summaries for Amino Acid Metabolic Disorder

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8Disease Ontology, 32MalaCards
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Disease Ontology:8 An inherited metabolic disorders which impair the synthesis and degradation of amino acids.

MalaCards: Amino Acid Metabolic Disorder, also known as inborn errors of amino acid metabolism, is related to cystinuria and inborn amino acid metabolism disorder. An important gene associated with Amino Acid Metabolic Disorder is OTC (ornithine carbamoyltransferase).

Aliases & Classifications for Amino Acid Metabolic Disorder

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8Disease Ontology, 60UMLS, 56SNOMED-CT, 34MeSH, 27ICD9CM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Aliases & Descriptions:

amino acid metabolic disorder 8
inborn errors of amino acid metabolism 8
amino acid metabolism, inborn errors 60


External Ids:

Disease Ontology8 DOID:9252
MeSH34 D000592
ICD9CM27 270, 270.9

Related Diseases for Amino Acid Metabolic Disorder

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17GeneCards, 18GeneDecks
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Diseases related to Amino Acid Metabolic Disorder via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1cystinuria10.5
2inborn amino acid metabolism disorder10.5
3hereditary ataxia10.4
4molybdenum cofactor deficiency a10.4
5aminoacidopathies10.4
6argininosuccinic aciduria10.3
7hypermethioninemia10.3
8hartnup disease10.3
9carbamoyl phosphate synthetase i deficiency disease10.3
10citrullinemia10.3
11hyperlysinemia10.3
12alkaptonuria10.3
13glycine encephalopathy10.3
14methylmalonic aciduria and homocystinuria type cblf10.3
15ornithine translocase deficiency10.3
16urea cycle disorder10.3
17homocystinuria, cbld type, variant 110.3
18systemic primary carnitine deficiency disease10.1
19phenylketonuria10.1
20hyperhomocysteinemia10.1
21hyperargininemia10.1
22ornithine carbamoyltransferase deficiency10.1
23homocystinuria10.1
243-methylcrotonyl-coa carboxylase deficiency10.1
25agat deficiency10.1
26methylmalonic aciduria and homocystinuria type cblc10.1
27tyrosinemia type i10.1
28tyrosinemia type iii10.1
292-hydroxyglutaric aciduria10.1
30gamma-amino butyric acid metabolism disorder10.1
31histidine metabolism disease10.1
32multiple carboxylase deficiency10.1
33organic acidemia10.1
34serine deficiency10.1
35tyrosinemia10.1
36lysinuric protein intolerance10.1
37adult-onset citrullinemia type ii10.1
38blue diaper syndrome10.1
39neonatal intrahepatic cholestasis caused by citrin deficiency10.1
40gamma-cystathionase deficiency10.1
41cystinosis, ocular nonnephropathic10.1
42dicarboxylic aminoaciduria10.1
43glutaric acidemia type i10.1
44glycine n-methyltransferase deficiency10.1
45hyperprolinemia10.1
46hyperprolinemia type 210.1
47sarcosinemia10.1
48saccharopinuria10.1
49sulfite oxidase deficiency10.1
50hypermethioninemia due to adenosine kinase deficiency10.1

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



Diseases related to amino acid metabolic disorder

Clinical Features for Amino Acid Metabolic Disorder

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Drugs & Therapeutics for Amino Acid Metabolic Disorder

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Amino Acid Metabolic Disorder

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Anatomical Context for Amino Acid Metabolic Disorder

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Animal Models for Amino Acid Metabolic Disorder or affiliated genes

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Publications for Amino Acid Metabolic Disorder

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50PubMed
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Articles related to Amino Acid Metabolic Disorder:

idTitleAuthorsYear
1
Variable column length method development strategy for amino acid analysis in serum samples of neonates with metabolic disorders. (23602643)
2013
2
Lessons from genetic disorders of branched-chain amino acid metabolism. (16365091)
2006
3
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. (15050979)
2004
4
Tandem mass spectrometric analysis for disorders in amino, organic and fatty acid metabolism: two year experience in South Korea. (15906713)
2003
5
HPLC method for amino acids profile in biological fluids and inborn metabolic disorders of aminoacidopathies. (23105346)
2002
6
The dibasic amino acid metabolic disorders]. (1404883)
1992
7
Speech disorders associated with histidinemia and other hereditary disorders of amino acid metabolism. (3710332)
1986
8
A review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency. (3888441)
1985
9
Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. (13693094)
1961
10
Aminoaciduria and certain related disorders of amino acid metabolism. (13832342)
1960

Genetic Variations for Amino Acid Metabolic Disorder

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Expression for genes affiliated with Amino Acid Metabolic Disorder

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amino Acid Metabolic Disorder

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Pathways for genes affiliated with Amino Acid Metabolic Disorder

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Compounds for genes affiliated with Amino Acid Metabolic Disorder

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GO Terms for genes affiliated with Amino Acid Metabolic Disorder

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Products for genes affiliated with Amino Acid Metabolic Disorder

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  • Antibodies
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Sources for Amino Acid Metabolic Disorder

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet