A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations

Succinyl-CoA:3-oxoacid CoA-transferase (SCOT) deficiency is an inborn error of ketone body utilization characterized by intermittent ketoacidosis crises. This study reports the first Iranian patient with SCOT deficiency who presented with seizure and hypotonia at birth. Accordingly, she was conseque...

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Detalles Bibliográficos
Autores principales: AMIRKASHANI, Davoud, ASADOLLAHI, Mostafa, HOSSEINI, Rozita, TALEBI, Saeed, GOLCHEHRE, Zahra, KERAMATIPOUR, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114279/
https://www.ncbi.nlm.nih.gov/pubmed/37091464
http://dx.doi.org/10.22037/ijcn.v17i2.35963

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114279/
https://www.ncbi.nlm.nih.gov/pubmed/37091464
http://dx.doi.org/10.22037/ijcn.v17i2.35963

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