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
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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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]
Citations
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
Institute of Medicine (1998) · National Academies Press eBooks · doi:10.17226/6015 · Cited by 2,464
Homocysteine and Cardiovascular Disease
Refsum, H., Ueland, P. M., Nygård, O., & Vollset, S. E. (1998) · Annual Review of Medicine · doi:10.1146/annurev.med.49.1.31 · Cited by 2,180
Self-citationMethionine metabolism in mammals
Finkelstein, J. D. (1990) · The Journal of Nutritional Biochemistry · doi:10.1016/0955-2863(90)90070-2 · Cited by 1,495
The Effect of Folic Acid Fortification on Plasma Folate and Total Homocysteine Concentrations
Jacques, P. F., Selhub, J., Bostom, A. G., Wilson, P. W. F., & Rosenberg, I. H. (1999) · New England Journal of Medicine · doi:10.1056/nejm199905133401901 · Cited by 1,117
Total Plasma Homocysteine and Cardiovascular Risk Profile
Nygard, O. K., Vollset, S. E., Refsum, H., Stensvold, I., Tverdal, A., Nordrehaug, J. E., Ueland, P. M., & Kvåle, G. (1995) · JAMA · doi:10.1001/jama.1995.03530190040032 · Cited by 1,077
Self-citationHomocysteine and vascular disease
Hankey, G. J., & Eikelboom, J. W. (1999) · The Lancet · doi:10.1016/s0140-6736(98)11058-9 · Cited by 1,070
5, 10-Methylenetetrahydrofolate Reductase Gene Variants and Congenital Anomalies: A HuGE Review
Botto, L. D., & Yang, Q. (2000) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a010290 · Cited by 1,045
Botto, L. D., Moore, C. A., Khoury, M. J., & Erickson, J. D. (1999) · New England Journal of Medicine · doi:10.1056/nejm199911113412006 · Cited by 1,000
Total homocysteine in plasma or serum: methods and clinical applications
Ueland, P. M., Refsum, H., Stabler, S. P., Malinow, M. R., Andersson, A. D. R., & Allen, R. H. (1993) · Clinical Chemistry · doi:10.1093/clinchem/39.9.1764 · Cited by 984
Self-citation
Cited by
Sorted by citations
Facts and recommendations about total homocysteine determinations: an expert opinion
Refsum, H., Smith, A. D., Ueland, P. M., Nexo, E., Clarke, R., McPartlin, J., Johnston, C., Engbaek, F., Schneede, J., McPartlin, C., et al. (2004) · Clinical Chemistry · doi:10.1373/clinchem.2003.021634 · Cited by 1,056
Self-citationBiomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency
Hannibal, L., Lysne, V., Bjørke‐Monsen, A., Behringer, S., Grünert, S. C., Spiekerkoetter, U., Jacobsen, D. W., & Blom, H. J. (2016) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2016.00027 · Cited by 396
Self-citationCauses of Vitamin B 12 and Folate Deficiency
Allen, L. H. (2008) · Food and Nutrition Bulletin · doi:10.1177/15648265080292s105 · Cited by 342
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
Biomarkers of Nutrition for Development (BOND): Vitamin B-12 Review
Allen, L. H., Miller, J. W., de Groot, C. P. G. M., Rosenberg, I. H., Smith, A. D., Refsum, H., & Raiten, D. J. (2018) · Journal of Nutrition · doi:10.1093/jn/nxy201 · Cited by 303
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
