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Homocystinuria: A Rare Cause of Megaloblastic Anemia


image: Homocystinuria: A Rare Cause of Megaloblastic Anemia

Source: www.indianpediatrics.net
Topic: Megaloblastic anemia
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Sort Desciption: on treatment for megaloblastic anemia with 5. mg of folic acid and 100 g of vitamin B ... Classically megaloblastic anemia has been. known to be ...

Content Inside:
Homocystinuria may also be due to defects in methyl cobalamin formation, i.e., homocystinuria type II, characterized by the triad of megaloblastic anemia, homo-cystinuria and hypomethioninemia. Deficiency of the enzyme methyltetra-hydrofolate reductase, results in homo cystinuria type III, which is characterized by homocystinuria and homocystinemia with low or normal blood methionine levels(2).

We encountered a patient with macrocytosis with bicytopenia and megaloblastic changes in the marrow, treated with folate and vitamin B 12 at this hospital. After the initial improvement in anemia, the patient reported back after two years with pallor and pain in his right eye when we made a diagnosis of homocystinuria and instituted specific treatment.

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