A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacid-CoA transferase deficiency with OXCT1 gene mutations

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare autosomal recessive disorder that results in severe ketoacidosis due to a defect in ketone utilization. We describe a case of a 12-month-old infant presenting with severe metabolic acidosis, ketosis, and hyperammonemia, a combinatio...

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Detalles Bibliográficos
Autores principales: Dhammi, Navjot, Essakow, Jenna, Gallagher, Renata, Gaw, Cynthia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9280792/
https://www.ncbi.nlm.nih.gov/pubmed/35847427
http://dx.doi.org/10.1177/2050313X221111274

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9280792/
https://www.ncbi.nlm.nih.gov/pubmed/35847427
http://dx.doi.org/10.1177/2050313X221111274

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