ZFIN Human Disease: beta-ketothiolase deficiency

OBO ID: DOID:14723

Term Name:	beta-ketothiolase deficiency		Search Ontology:
Synonyms:	2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency alpha-methylacetoaceticaciduria Mitochondrial acetoacetyl-CoA Thiolase deficiency peroxisomal thiolase deficiency
Definition:	An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics
References:	GARD:872 MESH:C535818 OMIM:203750 ORDO:134 SNOMEDCT_US_2023_03_01:238067002 UMLS_CUI:C1533628
Ontology:	Human Disease ( DOID:14723 )

Relationships

is a type of:	amino acid metabolic disorder autosomal recessive disease amino acid metabolic disorder autosomal recessive disease Show first 5 Terms

OTHER beta-ketothiolase deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ACAT1	acat1	Alpha-methylacetoacetic aciduria	203750

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None