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Hyperhomocysteinemia: Clinical Insights.

Fuad Al Mutairi1,2,3

  • 1Medical Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Journal of Central Nervous System Disease
|October 26, 2020
PubMed
Summary

High homocysteine (Hcy) levels, or hyperhomocysteinemia (HHcy), are linked to cardiovascular and nervous system disorders. Maintaining normal Hcy levels may prevent associated cerebrovascular diseases.

Keywords:
Homocysteinecobalaminfolatehomocystinureamethylenetetrahydrofolate reductasevitamin B-12

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Area of Science:

  • Biochemistry
  • Pathophysiology
  • Clinical Medicine

Background:

  • Homocysteine (Hcy) is a metabolite of methionine (Met) metabolism.
  • Defective Met metabolism leads to increased Hcy levels, causing hyperhomocysteinemia (HHcy).
  • HHcy is an independent risk factor for cardiovascular and central nervous system disorders.

Purpose of the Study:

  • To review conditions associated with HHcy.
  • To discuss biochemical diagnostic workup for early HHcy diagnosis.
  • To highlight the need for further research into HHcy's cellular mechanisms and treatment efficacy.

Main Methods:

  • Literature review of studies on hyperhomocysteinemia.
  • Analysis of HHcy's role in metabolic pathways.
  • Examination of HHcy's impact on inflammatory responses and apoptosis.

Main Results:

  • HHcy is implicated in numerous clinical conditions, including cardiovascular and cerebrovascular diseases.
  • HHcy promotes inflammation by increasing pro-inflammatory cytokines and decreasing anti-inflammatory cytokines.
  • HHcy induces cell apoptosis, contributing to disease pathogenesis.

Conclusions:

  • Maintaining normal Hcy levels may prevent homocysteine-associated cerebrovascular disease.
  • Early diagnosis of HHcy is crucial and can be aided by biochemical workup.
  • Further research is needed to elucidate HHcy's cellular mechanisms and the effectiveness of Hcy-lowering agents.