Homocystinuria: a rare cause of megaloblastic anemia.
نویسندگان
چکیده
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.
منابع مشابه
Homocystinuria masquerading as vitamin B12 deficiency.
BACKGROUND Homocystinuria is a rare metabolic disorder characterized by excess homocysteine in the urine. Vitamin B12 deficiency has diverse cutaneous, nervous and ophthalmic manifestations. OBJECTIVE To report a case of homocystinuria masquerading as vitamin B 12 deficiency. CASE We hereby are presenting an interesting case of a 4 year old boy who was being treated for Vitamin B 12 deficie...
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Deficiency of vitamin B12 and/or folic acid as a cause of pyrexia, though known, is rarely reported in literature. We aimed to report a case in a 51 year old woman, who presented with fever and pancytopenia and was diagnosed to have megaloblastic anemia secondary to vitamin B12 and folate deficiency. The pyrexia subsided following the intramuscular injection of vitamin B12 and oral folic acid a...
متن کاملAbnormal Deoxyuridine Suppression Test in Congenital Methylmalonic Aciduria-Homocystinuria Without Megaloblastic Anemia: Divergent Biochemical and Morphological Bone Marrow Manifestations of Disordered Cobalamin Metabolism in Man
We studied two brothers (J.R. and M.R.) with the cobalamin D variant of congenital methylmalonic aciduria-homocystinuria. whose previously reported lack of megaloblastic anemia conflicted with current concepts of cobalamin’s role in DNA synthesis and the “methyltetrahydrofolate (MTHF) trapS’ hypothesis. Both subjects were indeed hematologically normal. although JR. had a mean corpuscular volume...
متن کاملAbnormal Deoxyuridine Suppression Test in Congenital Methylmalonic Aciduria-Homocystinuria Without Megaloblastic Anemia: Divergent Biochemical and Morphological Bone Marrow Manifestations of Disordered Cobalamin Metabolism in Man
We studied two brothers (J.R. and M.R.) with the cobalamin D variant of congenital methylmalonic aciduria-homocystinuria. whose previously reported lack of megaloblastic anemia conflicted with current concepts of cobalamin’s role in DNA synthesis and the “methyltetrahydrofolate (MTHF) trapS’ hypothesis. Both subjects were indeed hematologically normal. although JR. had a mean corpuscular volume...
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 41 9 شماره
صفحات -
تاریخ انتشار 2004