beta-ketothiolase deficiency
Sign in to saveAlso known as 2-methyl-3-hydroxybutyricacidemia, 3-ketothiolase deficiency, 3-oxothiolase deficiency, Mitochondrial acetoacetyl-CoA Thiolase deficiency, alpha-methylacetoaceticaciduria, peroxisomal thiolase deficiency (disorder), peroxisomal thiolase deficiency, BKT
Human disease
Research
114 papers- Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.Journal of human genetics · 2019
- Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.Clinical diabetes and endocrinology · 2024
- Beta-ketothiolase deficiency in a Malaysian infant.The Medical journal of Malaysia · 2019
- Beta-ketothiolase deficiency with neurological impairment: a case report.Annals of medicine and surgery (2012) · 2025
- NMR-based urinalysis for beta-ketothiolase deficiency.Clinica chimica acta; international journal of clinical chemistry · 2015
via PubMed
Wikidata facts
Show 4 more facts
- exact match
- www.orpha.net/ORDO/Orphanet_134
- NCI Thesaurus ID
- C98841
- external data available at URL
- www.nanbyou.or.jp/entry/5443
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (6)
via Wikidata · CC0