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beta-ketothiolase deficiency

Go to external page 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 ]

Synonyms: 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 alpha-methylacetoaceticaciduria 2-methyl-3-hydroxybutyricacidemia peroxisomal thiolase deficiency beta-ketothiolase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:203750 (Orphanet:134/e)
  • MESH:C535434 (MONDO:equivalentTo)
  • UMLS:C1533628 (MONDO:relatedTo)
  • GARD:872 (Orphanet:134)
  • Orphanet:134 (OMIM:203750)
  • DOID:14723 (MONDO:equivalentTo)
  • NCIT:C98841 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://www.orpha.net/ORDO/Orphanet_134

http://identifiers.org/mesh/C535434

http://purl.obolibrary.org/obo/DOID_14723

http://purl.obolibrary.org/obo/NCIT_C98841

https://omim.org/entry/203750

has related synonym

Mat deficiency

ALPHA-methylacetoacetic aciduria

Beta ketothiolase deficiency

3-Ktd deficiency

2-Methyl-3-hydroxybutyric acidemia

mitochondrial acetoacetyl-Coa thiolase deficiency

id

MONDO:0008760

relatedMatch

http://linkedlifedata.com/resource/umls/id/C1533628

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008760