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

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