These included removing variants that were called less than X8 or were off-target (>8 bp from splice junction), synonymous or had minor allele frequency (MAF)>0.005 at the Genome Aggregation Database (GnomAD browser).1 The analysis identified the previously reported homozygous pathogenic variant c.1354 G > A in the SLC22A5 gene, which is known to cause a primary carnitine deficiency (6). The gene discussed is SLC22A5; the disease is systemic primary carnitine deficiency disease.