A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian
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 mumol per milligram of creatinine) and homocystinuria (0.85 mumol 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.
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Committee on Drugs,
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Mudd, S. H., Finkelstein, J. D., Refsum, H., Ueland, P. M., Malinow, M. R., Lentz, S. R., Jacobsen, D. W., Brattstrom, L., Wilcken, B., Wilcken, D. E. L., Blom, H. J., Stabler, S. P., Allen, R. H., Selhub, J., Rosenberg, I. H.
(2000). Homocysteine and Its Disulfide Derivatives : A Suggested Consensus Terminology. Arterioscler. Thromb. Vasc. Bio.
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Segasothy, M., Phillips, P.A.
(1999). Vegetarian diet: panacea for modern lifestyle diseases?. QJM
92: 531-544
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Merritt, R. J., Hack, S.
(1988). Invited Review: Infant Feeding and Enteral Nutrition. Nutr Clin Pract
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Ashkenazi, S., Weitz, R., Varsano, I., Mimouni, M.
(1987). Vitamin B12 Deficiency Due to a Strictly Vegetarian Diet in Adolescence. CLIN PEDIATR
26: 662-663
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Sadowitz, P. D., Livingston, A., Cavanaugh, R. M.
(1986). Developmental Regression as an Early Manifestation of Vitamin B12 Deficiency. CLIN PEDIATR
25: 369-371
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Sklar, R.
(1986). Nutritional Vitamin B12 Deficiency in a Breast-fed Infant of a Vegan-diet Mother. CLIN PEDIATR
25: 219-221
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Christoffel, K.
(1981). A Pediatric Perspective on Vegetarian Nutrition. CLIN PEDIATR
20: 632-643
