Vitamin B12-responsive neonatal megaloblastic anemia and homocystinuria with associated reduced methionine synthase activity
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چکیده
منابع مشابه
Vitamin B12-responsive neonatal megaloblastic anemia and homocystinuria with associated reduced methionine synthase activity.
We present findings on an infant with neonatal megaloblastic anemia, homocystinuria, and neurologic dysfunction that included developmental delay and tonic seizures. There was no methylmalonic aciduria. Cyanocobalamin therapy was accompanied by complete hematologic and neurologic recovery, diminished homocystine excretion, and subsequently normal neurologic development. Cultured fibroblasts and...
متن کاملAltered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.
Cultured fibroblasts from a recently described patient with homocystinuria and megaloblastic anemia of infancy without methylmalonic aciduria were previously shown to have normal cobalamin uptake and a specific decrease in the proportion of intracellular methylcobalamin. As in control cells but unlike in those from patients with combined homocystinuria and methylmalonic aciduria (cobalamin C an...
متن کاملHomocystinuria: a rare cause of megaloblastic anemia.
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.
متن کاملThiamine responsive megaloblastic anemia.
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. She also had retinitis pigmentosa. The anemia improved and blood sugar was controlled with daily oral thiamine. Previously unreported olfactory abnormalities, as described in Wolfram syndrome, were also present in our...
متن کاملMegaloblastic anemia of pregnancy: characteristics of pure megaloblastic anemia and megaloblastic anemia associated with iron deficiency.
LTHOUGH megaboblastic anemia of pregnancy is considered mainly as a folic acid deficiency anemia, since this vitamin induces remission in most cases, its mechanism of production is still obscure. Dietary deficiency has been claimed to be the principal cause. However, this anemia has been observed in well-to-do women whose diet was satisfactory. Some other factors such as gastrointestinal upset,...
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ژورنال
عنوان ژورنال: Blood
سال: 1987
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v69.4.1128.bloodjournal6941128