Confirmatory Sanger sequencing at 31 months of age (2 years 7 months) revealed two pathogenic variants in ALDH5A1 (confirmed to be in trans): NM_001080.3:c.612G>A (p.Trp204Ter) and NM_001080.3:c.1234C>T (p.Arg412Ter) consistent with her biochemical diagnosis of SSADHD (Table 1). The gene discussed is ALDH5A1; the disease is succinic semialdehyde dehydrogenase deficiency.