A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inborn error of ketone body utilization, characterized by episodic or permanent ketosis. SCOT deficiency is caused by mutations in the OXCT1 gene, which is mapped to 5p13 and consists of 17 exons. A 12-month-old girl presented with...

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Detalles Bibliográficos
Autores principales: Kim, Young A, Kim, Seong Heon, Cheon, Chong Kun, Kim, Yoo-Mi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391521/
https://www.ncbi.nlm.nih.gov/pubmed/30799594
http://dx.doi.org/10.3349/ymj.2019.60.3.308

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391521/
https://www.ncbi.nlm.nih.gov/pubmed/30799594
http://dx.doi.org/10.3349/ymj.2019.60.3.308

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