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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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Alijanpour, Morteza, Sasai, Hideo, Abdelkreem, Elsayed, Ago, Yasuhiko, Soleimani, Shima, Moslemi, Leila, Yamaguchi, Seiji, Rezapour, Masomeh, Hakimi, Mohammad T., Matsumoto, Hideki, Fukao, Toshiyuki
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Case Reports
Acesso em linha: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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