We studied two brothers (JR and MR) with the cobalamin D variant of congenital
methylmalonic aciduria-homocystinuria, whose previously reported lack of megaloblastic …

The case is described of an infant who suffered from progressive. severe dystrophy.
hemolytic and megaloblastic anemia. hematuria. proteinuria and slight uremia. He died at 4 …

Functional methionine synthase deficiency due to abnormal methylcobalamin metabolism
causes megaloblastic anemia, moderate to severe developmental delay, lethargy, and …

The haematological and neurological consequences of cobalamin deficiency define the
essential role of this vitamin in key metabolic reactions. The identification of cubilin …

This case report describes a patient with early‐onset cobalamin C deficiency who was
started on treatment with high‐dose parenteral hydroxocobalamin after diagnosis at 13 days …

We performed studies in 25 patients with low serum cobalamin levels who had few if any
clinical or hematologic findings of cobalamin deficiency. All but three had morphologically …

The cblD defect of intracellular vitamin B12 metabolism can lead to isolated methylmalonic
aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and …

An infant with vitamin B12-responsive methylmalonic aciduria and no homocystinuria or
megaloblastic anemia presented with stomatitis, glossitis, convulsions, and developmental …

Abstract Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism
error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active …

The unknown biochemical basis for neurologic dysfunction in cobalamin deficiency and the
frequent divergence between neurologic and hematologic manifestations led us to study …