Epileptiform ocular movements with methylmalonic aciduria and homocystinuria.
A 7 1/2-year-old girl with a rare defect in cobalamin (vitamin B12) metabolism ("cobalamin C" type) developed epileptiform ocular and eyelid movements as the major clinical manifestation of the disease. One of three other patients who have been described with congenital syndrome was similarly noted to have "fluttering" of the eyelids interpreted as epileptic discharges. The metabolic abnormality produced a defect in synthesis of cobalamin coenzymes. It is characterized biochemically by the excreation of methylmalonic acid and homocystine in the urine.
D002648:Child; D002675:Child, Preschool; D003038:Cobamides / Q000378:metabolism; D004827:Epilepsy / Q000150:complications*; D005133:Eye Movements; D005141:Eyelid Diseases / Q000150:complications; D005260:Female; D006712:Homocystinuria / Q000150:complications*; D006801:Humans; D008314:Malonates / Q000652:urine*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism*; D008764:Methylmalonic Acid / Q000652:urine*; D013577:Syndrome; D014805:Vitamin B 12 / Q000378:metabolism
D003038:Cobamides; D008314:Malonates; D008764:Methylmalonic Acid; D014805:Vitamin B 12