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...
Main Authors: | Suzanne Marie G. Carmona, Mary Ann R. Abacan, Maria Melanie Liberty B. Alcausin |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-01-01
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Series: | International Journal of Neonatal Screening |
Subjects: | |
Online Access: | https://www.mdpi.com/2409-515X/9/1/4 |
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