Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area

Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area

Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) gene which encodes the key protein of the carnitine cycle, the OCTN2 carnitine transporter. PCD is typically identified in childhood by either hypoketotic hypoglycemia, or skeletal and cardiac myopathy...

Full description

Bibliographic Details
Main Authors: Wei Zhou, Huizhong Li, Ting Huang, Yan Zhang, Chuanxia Wang, Maosheng Gu
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Pediatrics
Subjects:
primary carnitine deficiency (PCD)
SLC22A5 gene
newborn screening
tandem mass spectrometry (MS/MS)
maternal PCD
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00050/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2019.00050/full

Similar Items