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Indian Pediatr. 2004 Sep;41(9):941-3.

Homocystinuria: a rare cause of megaloblastic anemia.

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Department of Pediatrics, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India.


We present an eight-year-old boy who initially presented to us with megaloblastic anemia and subsequently developed dislocation of lens. The child had a positive sodium nitroprusside test and homocystinuria. He was diagnosed to have homocystinuria type 1. His anemia improved on oral pyridoxine and folic acid therapy. Homocystinuria should be remembered as a cause of megaloblastic anemia.

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