Clinical and gene analysis of primary carnitine deficiency found by neonatal screening
10.3969/j.issn.1000-3606.2017.09.008
- VernacularTitle:新生儿筛查发现的原发性肉碱缺乏症临床与基因分析
- Author:
Yun SUN
;
Dingyuan MA
;
Yanyun WANG
;
Wei CHENG
;
Xiaowei LIANG
;
Tao JIANG
- Keywords:
primary carnitine deficiency;
free carnitine;
SLC22A5 gene
- From:
Journal of Clinical Pediatrics
2017;35(9):666-668
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical feature and gene types in patients with primary carnitine deficiency. MethodsClinical data of 6 patients with primary carnitine deficiency and 2 patients with maternal carnitine deficiency found in the screening by tandem mass spectrometry technology during December 2013 to December 2016 were retrospectively analyzed. Results The free carnitine levels of 8 patients in initial and recall screening were 5.85±1.65 μmol/L and 5.22±1.02 μmol/L. Two pathogenic alleles were detected in each patient with primary carnitine deficiency by genetic and metabolic disease panel based on Ion Torrent semiconductor sequencing. After treatment with oral L-carnitine, the free carnitine levels of 6 patients with primary carnitine deficiency were 20.24±3.88 μmol/L. The carnitine levels returned to normal after mixed feeding for one week in 2 patients with maternal carnitine deficiency, and no genetic diagnosis was carried out. Conclusion Primary carnitine deficiency can be effectively detected using tandem mass spectrometry technology and next generation sequencing panel and the prognosis is good with early standard treatment.
