Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?

Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?

Early-onset carnitine palmitoyltransferase II deficiency (CPT II deficiency) (OMIM 600650) can result in severe outcomes, which are often fatal in the neonatal to infantile period. CPT II deficiency is a primary target in the Maritime Newborn Screening Program. We report a case of neonatal-onset CPT...

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Bibliographic Details
Main Authors: Rachel Mador-House, Zaiping Liu, Sarah Dyack
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:International Journal of Neonatal Screening
Subjects:
carnitine
CPT II deficiency
transferase
newborn
screening
treatment
Online Access:https://www.mdpi.com/2409-515X/7/3/55

Internet

https://www.mdpi.com/2409-515X/7/3/55

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