ACAD9 and hyperinsulinemic hypoglycemia, familial, 4: A diagnosis of ACAD9 deficiency was made based on the detection of a homozygous missense mutation in the acyl-CoA dehydrogenase gene ACAD9 (NM_014049.5; c.206A>G; p.(Gln69Arg), ACAD9m/m) (Figure 2B and Table 1).