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A Syndrome of Methylmalonic Aciduria, Homocystinuria, Megaloblastic Anemia and Neurologic Abnormalities in a Vitamin B12-Deficient Breast-Fed Infant of a Strict Vegetarian
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 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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Citations
Cited by
The Transfer of Drugs and Other Chemicals Into Human Milk
Committee on Drugs (2001) · Pediatrics · doi:10.1542/peds.108.3.776 · Cited by 1,256
Stabler, S. P., Marcell, P. D., Podell, E. R., Allen, R. H., Savage, D. G., & Lindenbaum, J. (1988) · Journal of Clinical Investigation · doi:10.1172/jci113343 · Cited by 478
Dror, D. K., & Allen, L. H. (2008) · Nutrition Reviews · doi:10.1111/j.1753-4887.2008.00031.x · Cited by 473
Effects of Vitamin B 12 and Folate Deficiency on Brain Development in Children
Black, M. M. (2008) · Food and Nutrition Bulletin · doi:10.1177/15648265080292s117 · Cited by 393
Molloy, A. M., Kirke, P. N., Brody, L. C., Scott, J. M., & Mills, J. L. (2008) · Food and Nutrition Bulletin · doi:10.1177/15648265080292s114 · Cited by 308
Metadata
- Authors
- Higginbottom, M. C., Sweetman, L., & Nyhan, W. L.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1978-08-17
- Volume
- 299
- Issue
- 7
- Pages
- 317-323
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2006522951
- Cited by
- 260
- References
- 0
- FWCI
- 10.40
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: A Syndrome of Methylmalonic Aciduria, Homocystinuria, Megaloblastic Anemia and Neurologic Abnormalities in a Vitamin B12-Deficient Breast-Fed Infant of a Strict Vegetarian. https://app.cochat.ai/papers/10.1056/nejm197808172990701
- The paper
- Higginbottom, M. C., Sweetman, L., & Nyhan, W. L. (1978). A Syndrome of Methylmalonic Aciduria, Homocystinuria, Megaloblastic Anemia and Neurologic Abnormalities in a Vitamin B12-Deficient Breast-Fed Infant of a Strict Vegetarian. New England Journal of Medicine. https://doi.org/10.1056/nejm197808172990701
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
