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For example, the variant 677T is most commonly associated with cerebral vascular accident (stroke), elevated homocysteine, cardiovascular disease risk, peripheral neuropathy, deep vein thrombosis, early-onset heart disease, stillbirth, neuro-tube defect, cleft lip, and preeclampsia

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)