Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.

The variants of electron transfer flavoprotein (, ) and ETF dehydrogenase () are the leading cause of glutaric aciduria type II (GA-II). In this study, we identified 13 patients harboring six variants of two genes associated with GA-II. Out of the six variants, four were missense, and two were frameshift mutations.