Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing

Carnitine-acylcarnitine translocase deficiency (CACTD), a fatty acid oxidation defect (FAOD), can present in the neonatal period with non-specific findings and hypoglycemia. A high index of suspicion is needed to recognize the disorder. The case is of a 24-year-old G2P2(2000) mother who sought consu...

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Autores principales:	Suzanne Marie G. Carmona, Mary Ann R. Abacan, Maria Melanie Liberty B. Alcausin
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	MDPI AG 2023-01-01
Colección:	International Journal of Neonatal Screening
Materias:	carnitine acylcarnitine translocase deficiency (CACTD) fatty acid oxidation defect c.199 10T>G mutation SLC25A20
Acceso en línea:	https://www.mdpi.com/2409-515X/9/1/4
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