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Methylmalonic Acid and Homocysteine in Plasma as Indicators of Functional Cobalamin Deficiency in Infants on Macrobiotic Diets

Schneede, J, Dagnelie, P C, Van Staveren, W A, Vollset, S E, Refsum, H, Ueland, P M·1994·Pediatric Research

DOI 10.1203/00006450-199408000-00010

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Abstract

Methylmalonic acid and total homocysteine in plasma and serum have previously been used as indicators of intracellular cobalamin function in adults. To assess the usefulness of quantitation of these metabolites in the diagnosis of dietary cobalamin deficiency in infants, they were determined in plasma from 41 infants (aged 10-20 mo) on a macrobiotic diet and in 50 healthy group-matched omnivorous controls. In the macrobiotic infants, both methylmalonic acid and total homocysteine were markedly increased compared with controls (8-fold and 2-fold, respectively). Both metabolites showed an inverse relation to the plasma cobalamin level. The very low cobalamin content of the macrobiotic diet and low plasma cobalamin in macrobiotic infants makes an impaired cobalamin function likely in these infants. We therefore used dietary group as an independent indicator of cobalamin status. Different test parameters for cobalamin status were evaluated by comparing their ability to discriminate between the two dietary groups. Logistic regression analysis showed that methylmalonic acid followed by total homocysteine and cobalamin, in that order, were the strongest predictors of dietary group. Mean corpuscular volume and Hb had low discriminative power. We conclude that the determination of methylmalonic acid and total homocysteine represents a sensitive and specific test for the diagnosis and follow-up of nutritional cobalamin deficiency in infants. Furthermore, the finding of high methylmalonic acid and total homocysteine in plasma of most macrobiotic infants demonstrates a functional cobalamin deficiency in these subjects.

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Authors: Schneede, J., Dagnelie, P. C., Van Staveren, W. A., Vollset, S. E., Refsum, H., & Ueland, P. M.
Affiliations: Haukeland University Hospital (NO)
Erasmus University Rotterdam (NL)
University of Bergen (NO)
ORCID: Dagnelie, P C
Refsum, H
Ueland, P M
Venue: Pediatric Research
Publisher: Springer Science and Business Media LLC
Published: 1994-08
Volume: 36
Issue: 2
Pages: 194-201
ISSN: 0031-3998 (ISSN-L)
1530-0447
DOI: 10.1203/00006450-199408000-00010
OpenAlex: W2093227146
Cited by: 101
References: 20
Citations by year: 2023: 5 · 2021: 1 · 2020: 4 · 2019: 1 · 2018: 1 · 2017: 4 · 2016: 5 · 2015: 5 · 2014: 1 · 2013: 2 · 2012: 3
FWCI: 2.88
Type: journal article
Language: en
Open access: closed
Locations: Pediatric Research (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Nursing › Nutrition and Dietetics › Folate and B Vitamins Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Porphyrin Metabolism and Disorders
Keywords: methylmalonic acid, homocysteine, vitamin B12 deficiency, macrobiotic diet, infants, diagnostic biomarkers, mean corpuscular volume, hemoglobin
MeSH terms: Female, Homocysteine, Humans, Infant, Male, Methylmalonic Acid, Reference Values, Vitamin B 12 Deficiency, Diet, Macrobiotic

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Methylmalonic Acid and Homocysteine in Plasma as Indicators of Functional Cobalamin Deficiency in Infants on Macrobiotic Diets

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