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Homocysteine and methylmalonic acid in diagnosis and risk assessment from infancy to adolescence
Open accessAbstract
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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“However, the functional markers total homocysteine (tHcy) 13 and methylmalonic acid (MMA) have been established as useful indicators of vitamin B-12 status (13) and may be more sensitive indicators of mild vitamin B-12 deficiency (14,15).”
From Vitamin B-12 status in infancy is positively associated with development and cognitive functioning 5 y later in Nepalese children (2017) · cites this paper as [15]
In the citing paper
“the elevated tHcy values in these children could not be caused by folate deficiency but rather poor cobalamin status (14,15).”
From Vitamin B-12 status in infancy is positively associated with development and cognitive functioning 5 y later in Nepalese children (2017) · cites this paper as [15]
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Facts and recommendations about total homocysteine determinations: an expert opinion
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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)
- 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
- bronze
- doi.org
- 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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