Alpha-methylacetoacetic aciduria

Preferred Label : Alpha-methylacetoacetic aciduria;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 3-ktd deficiency; Beta-ketothiolase deficiency; Mat deficiency; Mitochondrial acetoacetyl-coa thiolase deficiency; 2-methyl-3-hydroxybutyric acidemia; T2 deficiency; 3-oxothiolase deficiency; 3-ketothiolase deficiency;

Description : This disorder, initially called alpha-methylacetoacetic aciduria, and more recently 3-oxothiolase deficiency, is an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and 2-butanone.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial acetoacetyl-CoA thiolase gene (ACAT1, 607809.0001);

Laboratory abnormalities : Increased urinary 2-methyl-3-hydroxybutyric acid; Increased urinary 2-methylacetoacetic acid; Increased urinary tiglylglycine; Increased urinary 2-butanone;

Prefixed ID : #203750;

Details

Origin ID

203750;

UMLS CUI

C1536500;

Automatic exact mappings (from CISMeF team)
- Brain demyelination due to methionine adenosyltransferase deficiency [ORDO Disease]
- Deficiency of acetyl-coenzyme A acyltransferase (disorder) [SNOMED CT concept]
- Hepatic methionine adenosyltransferase deficiency (disorder) [SNOMED CT concept]
- Methionine Adenosyltransferase Deficiency [NCIt concept]
Currated CISMeF NLP mapping
- Alpha-Methylacetoacetic Aciduria [NCIt concept]
- Beta ketothiolase deficiency [MedDRA Preferred Term]
- Beta ketothiolase deficiency [MeSH concept]
- Beta-ketothiolase deficiency [ORDO Disease]
- Ketoacidosis due to beta-ketothiolase deficiency [ICD-11 More detail]
- Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) [SNOMED CT concept]
- beta ketothiolase deficiency [MeSH Supplementary Concept]
- beta-ketothiolase deficiency [DO Concept]
DO Cross reference
- beta-ketothiolase deficiency [DO Concept]
Genes related to phenotype
- Acetyl-coa acetyltransferase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dehydration [HPO term]
- Episodic ketoacidosis [HPO term]
- Intellectual disability [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Beta-ketothiolase deficiency [ORDO Disease]
See also inter- (CISMeF)
- hypermethioninemia [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acetoacetyl-CoA thiolase deficiency [ICD-11 More detail]
- Alpha-Methylacetoacetic Aciduria [NCIt concept]
- Beta ketothiolase deficiency [MedDRA Preferred Term]
- Beta ketothiolase deficiency [MeSH concept]
- Beta-ketothiolase deficiency [ORDO Disease]
- Deficiency of acetyl-coenzyme A acetyltransferase (disorder) [SNOMED CT concept]
- Ketoacidosis due to beta-ketothiolase deficiency [ICD-11 More detail]
- Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) [SNOMED CT concept]
- beta ketothiolase deficiency [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Acetoacetyl-CoA thiolase deficiency [ICD-11 More detail]
- Deficiency of acetyl-coenzyme A acetyltransferase (disorder) [SNOMED CT concept]

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