Screening and short-term follow-up of newborns and mothers with primary carnitine deficiency

VernacularTitle:新生儿及母亲原发性肉碱吸收障碍筛查及短期随访观察
Author: Xinwen HUANG ; Fan TONG ; Jianbin YANG ; Rulai YANG ; Lili YANG ; Yiping QU ; Zhengyan ZHAO
Publication Type:Journal Article
Keywords: Primary carnitine deficiency; Newborn; Maternal; Newborn disease screening
From: Chinese Journal of Endocrinology and Metabolism 2012;28(5):397-401
CountryChina
Language:Chinese
Abstract: ObjectiveTo explore the screening and therapeutic efficacy of primary carnitine deficiency (PCD) in newborns and mothers.Methods164245 newborns and suspected mothers were investigated for PCD by tandem mass spectrometry (MS/MS).The overall epidemiology,prognosis,and follow-up of the screening program were investigated.ResultsTotally 55 suspected cases were identified at the primary screening stage.Four newborns and three mothers were confirmed as cases of PCD.The incidence rate of newborns was 1 ∶ 40076.All the patients showed normal growth and development during the follow-up.Blood free carnitine level was raised in all three mothers after treatment.ConclusionsScreening for PCD with MS/MS in newborns may represent a valuable procedure in preventive medicine by enabling early diagnosis and treatment before the onset of symptoms.This protocol is also highly efficient and applicable in diagnosis of mothers with PCD.