Mild carnitine uptake defect due to a novel homozygous mutation in the SLC22A5 gene detected by newborn screening

Abstract

variant c.820_821delTGinsGA (p.Trp274Glu) in the SLC22A5 gene, predicted to be damaging but unreported earlier, thus classified as a variant of unknown significance. OCTN2 activity in fibroblasts was 25% of the control value. The treatment and patient monitoring plan were adjusted accordingly.