A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis

Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is a rare genetic disorder of ketone utilization and isoleucine catabolism caused by mutations in the ACAT1 gene. Here we report the first Sri Lankan case of T2 deficiency confirmed by genetic analysis. A 4-year-old boy presen...

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Detalles Bibliográficos
Autores principales: Manawadu, Thivanka Vishwani, Jasinge, Eresha, Fernando, Meranthi, Gamage, Pradeep, Gunarathne, Anusha Varuni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer India 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093605/
https://www.ncbi.nlm.nih.gov/pubmed/32226259
http://dx.doi.org/10.1007/s12291-019-00851-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093605/
https://www.ncbi.nlm.nih.gov/pubmed/32226259
http://dx.doi.org/10.1007/s12291-019-00851-y

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