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[Homocystinuria in adulthood].

I Quéré1, B Simorre, M Ruivard

  • 1Service de médecine interne et maladies vasculaires, hôpital Saint-Eloi, 2, avenue Bertin-Sans, 34059 Montpellier, France. i-quere@chu-montpellier.fr

La Revue De Medecine Interne
|January 25, 2002
PubMed
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Homocystinuria, a metabolic disorder causing high homocysteine, often requires pediatricians for adult care. Effective prevention and treatment of its vascular and bone complications in adults need further research.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Context:

  • Homocystinuria is a genetic disorder affecting the methionine metabolic pathway.
  • It is characterized by elevated plasma homocysteine levels.
  • The most common form results from cystathionine beta-synthase deficiency.

Purpose:

  • To highlight the challenges in managing adult patients with homocystinuria.
  • To emphasize the need for specialized care, often involving pediatricians.
  • To identify gaps in understanding and treating age-related complications.

Summary:

  • Homocystinuria is an inborn error of metabolism with high homocysteine.
  • Adult patient management frequently involves pediatric expertise.
  • Age-related vascular and osteoporotic complications require further evaluation.

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Impact:

  • Informs clinical practice regarding adult homocystinuria management.
  • Identifies critical areas for future research in preventing and treating long-term complications.
  • Underscores the importance of a multidisciplinary approach for complex metabolic diseases.