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...

Descripción completa

Detalles Bibliográficos
Autores principales: Carmona, Suzanne Marie G., Abacan, Mary Ann R., Alcausin, Maria Melanie Liberty B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9844480/
https://www.ncbi.nlm.nih.gov/pubmed/36648771
http://dx.doi.org/10.3390/ijns9010004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9844480/
https://www.ncbi.nlm.nih.gov/pubmed/36648771
http://dx.doi.org/10.3390/ijns9010004

Ejemplares similares