Additionally, the c.51C>G (p.Phe17Leu) mutation in the SLC22A5 gene, linked to carnitine uptake deficiency, was found to be more prevalent in the Thai population [10], consistent with its increased allele frequency in East Asian populations, as indicated by the Genome Aggregation Database (gnomAD) with an aggregated allele frequency of 0.001662 [11]. Here, SLC22A5 is linked to systemic primary carnitine deficiency disease.