Abstract

The Role of Hyperhomocysteinemia in Disease

Highlights

  • Nutritional deficiencies of these vitamins and genetic defects of Hcy metabolism are mainly responsible for the elevation of cellular and plasma concentrations of Hcy, as well as for the high excretion of homocystine in urine

  • The inherited disorders of Hcy metabolism lead to severe increases in plasma Hcy levels, whereas mild to moderate HHcys are caused by vitamin deficiencies

  • The main biochemical findings of remethylation defects are homocystinuria and HHcy with low or relatively normal levels of plasma Met, which differentiates these diseases from the classical homocystinuria caused by cystathione b-synthase (CBS) deficiency, in which plasma Met levels are high

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Summary

Introduction

Nutritional deficiencies of these vitamins and genetic defects of Hcy metabolism are mainly responsible for the elevation of cellular and plasma concentrations of Hcy (hyperhomocysteinemia [HHcy]), as well as for the high excretion of homocystine (oxidized Hcy) in urine (homocystinuria). The inherited disorders of Hcy metabolism lead to severe increases in plasma Hcy levels, whereas mild to moderate HHcys are caused by vitamin deficiencies.

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