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Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia.

Abstract
Homocystinuria is an inborn error of amino acid metabolism in which homocystine accumulates in the blood and produces a slowly evolving clinical syndrome. We are presenting a case of a 4-year-old female child who presented to us with stroke and also had megaloblastic anemia. She was diagnosed as having homocystinuria type-1, and she responded to treatment.
AuthorsParveen Bhardwaj, Ravi Sharma, Minoo Sharma
JournalJournal of pediatric neurosciences (J Pediatr Neurosci) Vol. 5 Issue 2 Pg. 129-31 (Jul 2010) ISSN: 1998-3948 [Electronic] India
PMID21559159 (Publication Type: Case Reports)

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