Methionine adenosyltransferase I/iii deficiency

Preferred Label : Methionine adenosyltransferase I/iii deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mat deficiency; Mat I/iii deficiency; Hypermethioninemia, isolated persistent;

Description : Methionine adenosyltransferase deficiency is an inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic abnormalities have been reported in rare cases with severe loss of enzyme activity (Mudd et al., 2003).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the methionine adenosyltransferase 1 gene (MAT1A, 610550.0001);

Laboratory abnormalities : Increased serum methionine;

Prefixed ID : #250850;

Details

Origin ID

250850;

UMLS CUI

C0268621;

Automatic exact mappings (from CISMeF team)
- Beta-ketothiolase deficiency [ORDO Disease]
- Hypermethioninemia [MeSH Supplementary Concept]
- Ketoacidosis due to beta-ketothiolase deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Brain demyelination due to methionine adenosyltransferase deficiency [ICD-11 More detail]
- Brain demyelination due to methionine adenosyltransferase deficiency [ORDO Disease]
- Deficiency of methionine adenosyltransferase (disorder) [SNOMED CT concept]
- Hepatic methionine adenosyltransferase deficiency (disorder) [SNOMED CT concept]
- Methionine Adenosyltransferase Deficiency [NCIt concept]
- methionine adenosyltransferase deficiency [MeSH concept]
Genes related to phenotype
- Methionine adenosyltransferase I, alpha [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS demyelination [HPO term]
- Demyelination [HPO term]
- Dystonia [HPO term]
- Halitosis [HPO term]
- Hypermethioninemia [HPO term]
- Hyperreflexia [HPO term]
- Intellectual disability [HPO term]
- Peripheral demyelination [HPO term]
ORDO concept(s)
- Brain demyelination due to methionine adenosyltransferase deficiency [ORDO Disease]
See also inter- (CISMeF)
- Hypermethioninemia [HPO term]
- hypermethioninemia [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brain demyelination due to methionine adenosyltransferase deficiency [ORDO Disease]
- Brain demyelination due to methionine adenosyltransferase deficiency [ICD-11 More detail]
- Deficiency of methionine adenosyltransferase (disorder) [SNOMED CT concept]
- Hepatic methionine adenosyltransferase deficiency (disorder) [SNOMED CT concept]
- Hypermethioninemia [HPO term]
- Methionine Adenosyltransferase Deficiency [NCIt concept]
- hepatic methionine adenosyltransferase deficiency [SNOMED Notion]
- hypermethioninemia [MeSH concept]
- hypermethioninemia, nos [SNOMED Notion]
- methionine adenosyltransferase deficiency [MeSH concept]

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