Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report

BACKGROUND: Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare mitochondrial fatty acid oxidation (FAO) disorder that results in hypoketotic hypoglycemia and hepatic encephalopathy. It is caused by mutation in CPT1A. To date, only two symptomatic cases of CPT1A deficiency have been repor...

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Detalles Bibliográficos
Autores principales: Gan, Yi, Yu, Fei, Fang, Haining
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261918/
https://www.ncbi.nlm.nih.gov/pubmed/34233743
http://dx.doi.org/10.1186/s13052-021-01094-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261918/
https://www.ncbi.nlm.nih.gov/pubmed/34233743
http://dx.doi.org/10.1186/s13052-021-01094-5

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