Alpha-Methylacetoacetic Aciduria

Preferred Label : Alpha-Methylacetoacetic Aciduria;

NCIt synonyms : 3-Ketothiolase Deficiency;

NCIt related terms : Beta-Ketothiolase Deficiency; BKT;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma.;

Details

Origin ID

C98841;

UMLS CUI

C1536500;

Automatic exact mappings (from CISMeF team)
- Deficiency of acetyl-coenzyme A acyltransferase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Alpha-methylacetoacetic aciduria [OMIM Phenotype]
- 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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acetoacetyl-CoA thiolase deficiency [ICD-11 More detail]
- Alpha-methylacetoacetic aciduria [OMIM Phenotype]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_mapped_to_gene
- ACAT1 Gene [NCIt concept]

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