Mondo Description Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.
Uniprot Description An autosomal recessive inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype.
Disease Ontology Description An autosomal recessive disease 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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:14723
GARD:0000872
MESH:C535434
NCIT:C98841
OMIM:203750
Orphanet:134
MONDO:0008760
High level summary of knowledge for a disease, including descriptions and datasource references.