ALDH5A1 and succinic semialdehyde dehydrogenase deficiency: Subsequent exome sequencing analysis identified compound heterozygous, pathogenic variants in ALDH5A1 (NM_001080.3:c.1015–2A>C and NM_001080.3:c.1597G>A (p.Gly533Arg) confirming the diagnosis of succinic semialdehyde dehydrogenase deficiency (Table 1).