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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.
N Engl J Med. 1978 Aug 17; 299(7):317-23.NEJM

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.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

683264

Citation

Higginbottom, M C., et al. "A Syndrome of Methylmalonic Aciduria, Homocystinuria, Megaloblastic Anemia and Neurologic Abnormalities in a Vitamin B12-deficient Breast-fed Infant of a Strict Vegetarian." The New England Journal of Medicine, vol. 299, no. 7, 1978, pp. 317-23.
Higginbottom MC, Sweetman L, Nyhan WL. A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. N Engl J Med. 1978;299(7):317-23.
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. The New England Journal of Medicine, 299(7), 317-23.
Higginbottom MC, Sweetman L, Nyhan WL. A Syndrome of Methylmalonic Aciduria, Homocystinuria, Megaloblastic Anemia and Neurologic Abnormalities in a Vitamin B12-deficient Breast-fed Infant of a Strict Vegetarian. N Engl J Med. 1978 Aug 17;299(7):317-23. PubMed PMID: 683264.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. AU - Higginbottom,M C, AU - Sweetman,L, AU - Nyhan,W L, PY - 1978/8/17/pubmed PY - 1978/8/17/medline PY - 1978/8/17/entrez SP - 317 EP - 23 JF - The New England journal of medicine JO - N Engl J Med VL - 299 IS - 7 N2 - 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. SN - 0028-4793 UR - https://www.unboundmedicine.com/medline/citation/683264/A_syndrome_of_methylmalonic_aciduria_homocystinuria_megaloblastic_anemia_and_neurologic_abnormalities_in_a_vitamin_B12_deficient_breast_fed_infant_of_a_strict_vegetarian_ L2 - https://www.nejm.org/doi/10.1056/NEJM197808172990701?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -