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[Investigation of hyperhomocysteinemia]

Charlotte Veyrat-Durebex1, Hélène Blasco, Julie Crinier

  • 1Laboratoire de biochimie et biologie moléculaire, CHRU de Tours, Tours, France, Inserm U930, Equipe neurogénétique et neurométabolomique, Université François Rabelais, Tours, France.

Annales De Biologie Clinique
|October 12, 2013
PubMed

Insights

Hyperhomocysteinemia, an elevated homocysteine (Hcy) level, is linked to blood clots and neurological issues. This study outlines clinical signs and a biological strategy for diagnosing hyperhomocysteinemia effectively.

Area of Science:

  • Biochemistry
  • Clinical Medicine
  • Genetics

Context:

  • Hyperhomocysteinemia is a known risk factor for thromboembolic events.
  • Emerging evidence suggests a role in neurodegenerative and neuropsychiatric disorders.
  • Homocysteine (Hcy) toxicity is increasingly recognized.

Purpose:

  • To address the need for a systematic investigation tool for hyperhomocysteinemia.
  • To elucidate the complexity of homocysteine metabolism.
  • To improve the etiologic diagnosis of hyperhomocysteinemia, differentiating genetic and nutritional causes.

Summary:

  • Presents a brief overview of the clinical manifestations of hyperhomocysteinemia.
  • Proposes a strategic approach for biological investigation.
  • Aims to facilitate accurate diagnosis by understanding homocysteine metabolism.

Impact:

  • Enhances understanding of hyperhomocysteinemia's diverse clinical implications.
  • Provides a framework for improved diagnostic strategies.
  • Facilitates the identification of underlying causes, guiding targeted interventions.

Keywords:
CBSMTHFRcobalaminfolateshomocysteine

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