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
In the Vinony graph
Vinony's link graph records 86 inbound references to beta-ketothiolase deficiency, and connects out to enzyme, gene and lipid.
It is catalogued under topics including Amino acid metabolism disorders, Autosomal recessive disorders and Rare diseases.
Vinony links it to 6 Wikipedia language editions.
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
Connections
enzyme
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gene
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lipid
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amino acid
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vomiting
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public domain
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mutation
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central nervous system
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coma
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albinism
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citric acid
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ketone
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glycine
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International Statistical Classification of Diseases and Related Health Problems
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dehydration
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melanin
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DL-glutamic acid
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L-arginine
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tryptophan
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L-valine
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