beta-ketothiolase deficiency
http://purl.obolibrary.org/obo/MONDO_0008760
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. [ Orphanet:134 ]
Term info
- NCIT:C98841 (MONDO:equivalentTo)
- UMLS:C1533628 (MONDO:relatedTo)
- GARD:0000872 (MONDO:equivalentTo)
- DOID:14723 (MONDO:equivalentTo)
- MESH:C535434 (MONDO:equivalentTo)
- Orphanet:134 (OMIM:203750)
- OMIM:203750 (Orphanet:134/e)
ordo_disease
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.
http://identifiers.org/mesh/C535434, http://purl.obolibrary.org/obo/Orphanet_134, http://purl.obolibrary.org/obo/DOID_14723, http://purl.obolibrary.org/obo/NCIT_C98841, https://omim.org/entry/203750
Alpha-methyl-acetoacetyl-CoA thiolase deficiency, mitochondrial acetoacetyl-coenzyme A thiolase deficiency, Alpha methylacetoacetic aciduria, 3-ketothiolase deficiency, T2 deficiency, mitochondrial acetoacetyl-CoA thiolase deficiency, 3-oxothiolase deficiency, BKT, 2-methyl-3-hydroxybutyricacidemia, alpha-methylacetoaceticaciduria, peroxisomal thiolase deficiency, beta-ketothiolase deficiency
Mat deficiency, ALPHA-methylacetoacetic aciduria, Beta ketothiolase deficiency, 3-Ktd deficiency, 2-Methyl-3-hydroxybutyric acidemia, mitochondrial acetoacetyl-Coa thiolase deficiency
MONDO:0008760