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Free Radic Biol Med 102:203216

Most GHI cases have autosomal recessive inheritance and in the vast majority a molecular defect has been identified involving homozygous or compound heterozygous mutations (Lupu et al., 2001)

Clinically, many late-onset MADD patients respond dramatically to high-dose riboflavin (100400 mg/day), confirming residual enzyme function amenable to cofactor restorationclassifying MADD as a prototype FAD-responsive metabolic myopathy (70)