A Syndrome of Methylmalonic Aciduria,... : New England Journal of Medicine (original) (raw)

A Syndrome of Methylmalonic Aciduria, Homocystinuria, Megaloblastic Anemia and Neurologic Abnormalities in a Vitamin B12 -Deficient Breast-Fed Infant of a Strict Vegetarian

Marilyn C. Higginbottom
Lawrence Sweetman
William L. Nyhan

New England Journal of Medicine

299

(

)

317

323

August 17, 1978

| DOI: 10.1056/NEJM197808172990701

Abstract

We studied a six-month-old infant with severe megaloblastic anemia, coma and hyperpigmentation of the extremities. He was found to have methylmalonic aciduria (79 μmol per milligram of creatinine) and homocystinuria (0.85 μmol per milligram of creatinine). Additional biochemical abnormalities included cystathioninuria, glycinuria, methylcitric aciduria, 3-hydroxypropionic aciduria and formic aciduria. The concentration of vitamin B12 in the serum was 20 pg per milliliter. This severe nutritional deficiency was a consequence of inadequate intake, for the infant was exclusively breast-fed by a strictly vegetarian mother who manifested methylmalonic aciduria. Our observations emphasize the importance of educating strict vegetarians about the deficiency of vitamin B12 in their diets and the importance of vitamin B12 supplementation. (N Engl J Med 299:317-323, 1978)