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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Detalles Bibliográficos
Autores principales: Alijanpour, Morteza, Sasai, Hideo, Abdelkreem, Elsayed, Ago, Yasuhiko, Soleimani, Shima, Moslemi, Leila, Yamaguchi, Seiji, Rezapour, Masomeh, Hakimi, Mohammad T., Matsumoto, Hideki, Fukao, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498828/
https://www.ncbi.nlm.nih.gov/pubmed/31240151
http://dx.doi.org/10.1002/jmd2.12022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498828/
https://www.ncbi.nlm.nih.gov/pubmed/31240151
http://dx.doi.org/10.1002/jmd2.12022

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