Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening

The objective of the study was to investigate clinical and gene mutation characteristics of primary carnitine deficiency (PCD) patients identified by newborn screening using tandem mass spectrometry (MS/MS).

Tandem mass spectrometry (MS/MS) was applied to screen inherited metabolic disease and seven patients with PCD were diagnosed among 62,568 samples. The SLC22A5 gene was detected by using diagnosis panel of genetic and metabolic diseases based on Ion Torrent Semiconductor Sequencing Technology.

The initial free carnitine (C0) concentrations of the patients were 6.43±1.36 μmol/L, and the recall screening concentrations were 5.59±0.89 μmol/L. The patients were treated with oral carnitine, so the levels after treatment were 20.24±3.88 μmol/L. All patients had two pathogenic mutation alleles.

The combined application of MS/MS and a next generation sequencing panel could be used for the accurate diagnosis of PCD. The results of genetic diagnosis can guide the assisted reproductive treatment. The prognosis of PCD patients is good after early treatment.