期刊
FRONTIERS IN PEDIATRICS
卷 7, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fped.2019.00050
关键词
primary carnitine deficiency (PCD); SLC22A5 gene; newborn screening; tandem mass spectrometry (MS/MS); maternal PCD
类别
资金
- Artificial Intelligence-Aided Diagnosis Platform for Genetic Metabolic Disease [2017YFC1001703]
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. The aim of this study was to the clinical, biochemical, and molecular characteristics of PCD patients via newborn screening with tandem mass spectrometry (MS/MS). Methods: MS/MS was performed to screen newborns for inherited metabolic diseases. SLC22A5 gene mutations were detected in the individual and/or their family member by DNA mass array and next-generation sequencing (NGS). Results: Among the 236,368 newborns tested, ten exhibited PCD, and six others were diagnosed with low carnitine levels caused by their mothers, who had asymptomatic PCD. The incidence of PCD in the Xuzhou area is similar to 1:23,637. The mean initial free carnitine (C-0) concentration of patients was 6.41 +/- 2.01 mu mol/L, and the follow-up screening concentration was 5.80 +/- 1.29 mu mol/L. After treatment, the concentration increased to 22.8 +/- 4.13 mu mol/L. Conclusion: This study demonstrates the important clinical value of combining MS/MS and NGS for the diagnosis of PCD and provides new insight into the diagnosis of PCD and maternal patients with PCD using C-0 concentration and SLC22A5 mutations.
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