About: beta-ketothiolase deficiency

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About: beta-ketothiolase deficiency Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease amino acid metabolic disorder nodeID://b50949730 nodeID://b50949731 nodeID://b50949732 nodeID://b50949733 nodeID://b50949734
label	beta-ketothiolase deficiency
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:14723
database_cross_reference	GARD:872 MESH:C535818 OMIM:203750 ORDO:134 SNOMEDCT_US_2021_09_01:238067002 UMLS_CUI:C1533628
has_exact_synonym	2-methyl-3-hydroxybutyricacidemia (en) 3-ketothiolase deficiency (en) 3-oxothiolase deficiency (en) Mitochondrial acetoacetyl-CoA Thiolase deficiency (en) alpha-methylacetoaceticaciduria (en) peroxisomal thiolase deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50949735

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