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
Summary
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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