A rare presentation of Carnitine palmitoyltransferase II (CPT-2) deficiency with normal acylcarnitine profile in a 10-year-old boy with muscle weakness and bilateral hearing loss; a case report

Carnitine palmitoyltransferase II (CPT-2) deficiency is a rare and autosomal recessive disorder of long-chain fatty acids oxidation. Here, we reported a 10-year-old boy with bilateral hearing loss and a myopathic form of CPT II deficiency, which was confirmed by a molecular genetic test. He was admi...

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Detalles Bibliográficos
Autores principales: VAFAEE SHAHI, Mohammad, GHASEMI, Saeide, TAHERNIA, Leila, RIAHI, Aina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9699927/
https://www.ncbi.nlm.nih.gov/pubmed/36478999
http://dx.doi.org/10.22037/ijcn.v17i1.27609

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9699927/
https://www.ncbi.nlm.nih.gov/pubmed/36478999
http://dx.doi.org/10.22037/ijcn.v17i1.27609

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