Abstract

Abstract Objectives Homocysteine (Hcy) is a nonessential amino acid, produced by the demethylation of methionine. High Hcy levels, or hyperhomocysteinemia, have been associated with genetic and multifactorial diseases. Hcy reference values may vary between different populations, as Hcy levels are affected by factors such as sex, age, diet, smoking, and coffee consumption. The estimation reference interval (RI) allows to establish the normal values of this marker in population. At present, these levels are unknown in Cuba. The aim of this work is to estimate the Hcy reference intervals in Cuban children and adults. Methods Total Hcy concentration was quantified by high performance liquid chromatography (HPLC) in plasma. Hcy levels were evaluated in samples from 507 healthy individuals (260 children, 247 adults). Results RIs were estimated by nonparametric methods. We found significant differences between both age groups, but we did not find significant differences between sexes, within these groups. The established ranges were 2.56–14.55 µM and 3.63–17.19 µM for children and adults, respectively. Also, we observed a weak association between Hcy levels and age in both sex groups. Conclusions This is the first study that assesses Hcy reference values in Cuban population. Our results will allow the introduction of Hcy as a biochemical marker in laboratory testing.

Highlights

  • Homocysteine (Hcy) is a sulfhydryl-containing amino acid produced by the demethylation of the methionine (Met)

  • Deficiencies of the enzymes and cofactors acting in these metabolic pathways, are causes of genetic diseases such as classical homocystinuria, N(5,10)-methylenetetrahydrofolate reductase deficiency, homocistinuria combined with megaloblastic anemia and methylmalonic aciduria combined with homocystinuria [2]

  • All procedures performed during this research were in accordance with the Ethical Committee of our institution and The Code of Ethics of the World Medical Association (Declaration of Helsinki)

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Summary

Introduction

Homocysteine (Hcy) is a sulfhydryl-containing amino acid produced by the demethylation of the methionine (Met). Deficiencies of the enzymes and cofactors acting in these metabolic pathways, are causes of genetic diseases such as classical homocystinuria, N(5,10)-methylenetetrahydrofolate reductase deficiency, homocistinuria combined with megaloblastic anemia and methylmalonic aciduria combined with homocystinuria [2]. These disorders are characterized by increased Hcy levels in plasma; the quantification of Hcy is included in the diagnosis guidelines [3]. The data is generated by the quantification of the analyte in biological samples of healthy subjects. RIs vary depending on the biological sample, specific factors affecting the population under analysis and the laboratory analytical methods [9]

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