Tandem Mass Spectrometry: Table 2Molecular testing:(a)Homozygous pathogenic variant, c.63dup (p.Ser22GInfs*37), confirming CPT II deficiency.(b)Homozygous likely pathogenic variant was identified in SLC22A5 (c.641C > T(p.Ala214val), in keeping with primary carnitine deficiency. The gene discussed is CPT2; the disease is systemic primary carnitine deficiency disease.