Beta‐ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency

Beta‐ketothiolase (T2, mitochondrial acetoacetyl‐CoA thiolase) deficiency is an autosomal recessive disorder of isoleucine catabolism and ketone body metabolism that is characterized by increased urinary excretion of 2‐methylacetoacetate, 2‐methyl‐3‐hydroxybutyrate, and tiglylglycine. Most patients...

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Dettagli Bibliografici
Pubblicato in:JIMD Rep
Autori principali: Alijanpour, Morteza, Sasai, Hideo, Abdelkreem, Elsayed, Ago, Yasuhiko, Soleimani, Shima, Moslemi, Leila, Yamaguchi, Seiji, Rezapour, Masomeh, Hakimi, Mohammad T., Matsumoto, Hideki, Fukao, Toshiyuki
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons, Inc. 2019
Soggetti:
Case Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6498828/
https://ncbi.nlm.nih.gov/pubmed/31240151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12022
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