Homocystinuria in Thai Patient - Phramongkutklao Hospital Experience

* Department of Internal Medicine, Phramongkutklao Hospital, Bangkok 10400, Thailand**Department of Pediatrics, Phramongkutklao Hospital, Bangkok 10400, ThailandHomocystinuria is a rare autosomal recessive disorder of amino acid metabolism. Classic (type I)homocystinuria is the most common type and occurs as a consequence of a deficiency of cystathionine-b-synthase, producing increased blood and urine homocysteine.The authors report a 15-year-old Thai male who presented with generalized tonic-clonic seizures fromsuperior sagittal sinus thrombosis, bilateral downward subluxation of ocular lenses (ectopia lentis), Marfanoidhabitus, osteoporosis, attention deficit and hyperactivity disorder. Urine metabolic screening was positive forcyanide nitroprusside test. Levels of plasma homocysteine and methionine were elevated. The clinical andlaboratory findings in this case are consistent with the diagnosis of