Methylmalonic Acidemia and Megaloblastic Anemia due to Congenital Intrinsic Factor Deficiency

Congenital familial megaloblastic anemia.

Two sisters with a previously unreported megaloblastic anemia unassociated with a deficiency of either folic acid or vitamin B12 are described. Deficiencies of these vitamins were ruled out by standard studies. All other previously reported forms of megaloblastic anemia not secondary to a vitamin deficiency, such as orotic aciduria, were also excluded by appropriate studies. Optimal hemoglobin ...

Megaloblastic 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,...

Methylmalonic acidemia

The authors provide an overview of the hereditary methylmalonic acidemias, a group of metabolic disorders with varied clinical presentations. This includes the most severe form of L-methylmalonyl-CoA mutase deficiency, termed mut(o) methylmalonic acidemia, which, together with the less severe deficiencies of L-methylmalonyl-CoA mutase, are the most common causes of methylmalonic acidemia. They ...

Methylmalonic Acidemia.

Methylmalonic Acidemia (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. The effects of MMA vary from mild to life threatening and it usually presents in early infancy. Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive. The emergency treatment of the newborn wit...

Association of Methylmalonic Acidemia and Erythema Nodosum