Screening and short-term follow-up of newborns and mothers with primary carnitine deficiency / 中华内分泌代谢杂志

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.