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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: John Wiley & Sons, Inc. 2019
Subjects:
Case Reports
Online Access: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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