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Cited by 144Folate and B Vitamins ResearchMetabolism and Genetic DisordersPorphyrin Metabolism and Disorders

The DOI matches its Crossref record; 182 of the 188 references it cites were found in a registry or an index.

Homocysteine and methylmalonic acid in diagnosis and risk assessment from infancy to adolescence

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Bjørke Monsen, Anne Lise, Ueland, Per Magne·2003·The American Journal of Clinical Nutrition
DOI 10.1093/ajcn/78.1.7
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Abstract

The concentration of total homocysteine (tHcy) in serum and plasma is elevated in both folate and cobalamin deficiencies, whereas methylmalonic acid (MMA) in serum, plasma, or urine is a specific marker of cobalamin function. The combined measurement of both metabolites is useful for the diagnosis and follow-up of these deficiency states. In addition, tHcy is elevated under various pathologic states (eg, renal failure), and hyperhomocysteinemia is associated with an increased risk of cardiovascular disease, cognitive dysfunction, and adverse pregnancy outcomes. The diagnostic utility of tHcy and MMA concentrations as markers of folate and cobalamin deficiencies in healthy and diseased children has been documented. This article briefly summarizes the biochemical background of tHcy and MMA and the associations of tHcy and MMA with various disease states and focuses on novel data obtained in infants, children, and adolescents, with emphasis on cobalamin status in infants. The utility of tHcy and MMA as indicators of cobalamin and folate deficiencies in adults can be extended to infants and older children. Furthermore, as in adults, tHcy is related to unhealthy lifestyle factors and is a risk factor for vascular disease. High MMA concentrations in newborns, occasionally denoted as benign methylmalonic aciduria, may reflect impaired cobalamin function.

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Metadata

Authors
Bjørke Monsen, A. L., & Ueland, P. M.
Affiliations
University of Bergen (NO)
Corresponding author
Ueland, Per Magne
ORCID
Ueland, Per Magne
Venue
The American Journal of Clinical Nutrition
Publisher
Elsevier BV
Published
2003-07
Volume
78
Issue
1
Pages
7-21
ISSN
0002-9165 (ISSN-L)
DOI
10.1093/ajcn/78.1.7
OpenAlex
W2156115291
Cited by
144
References
188
Citations by year
2026: 3 · 2024: 8 · 2023: 7 · 2022: 2 · 2021: 7 · 2020: 9 · 2019: 3 · 2018: 5 · 2017: 5 · 2016: 5 · 2015: 2 · 2014: 8 · 2013: 11 · 2012: 7
FWCI
1.27
Type
journal article
Language
en
Open access
Licence
Locations
  • American Journal of Clinical Nutrition (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
total homocysteine, methylmalonic acid, folate deficiency, vitamin B12 deficiency, hyperhomocysteinemia, infants, children, adolescents, cardiovascular risk, renal failure, pregnancy outcomes, cobalamin status
MeSH terms
Adolescent, Child, Child, Preschool, Folic Acid, Folic Acid Deficiency, Food, Fortified, Homocysteine, Humans, Infant, Infant, Newborn, Methylmalonic Acid, Vitamin B 12 Deficiency

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