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Published on: November 29, 2024
672
Homocystinuria: Therapeutic approach
Tarun Kumar1, Gurumayum Suraj Sharma1, Laishram Rajendrakumar Singh1
1Dr. B. R. Ambedkar Center for Biomedical Research, University of Delhi, Delhi 110 007, India.
Summary
Homocystinuria treatment faces challenges with current methods. Recent advances focus on novel strategies like restoring cystathionine β-synthase (CBS) function and reducing homocysteine toxicity for better therapeutic outcomes.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Pharmacology
Background:
- Homocystinuria is a sulfur metabolism disorder due to cystathionine β-synthase (CBS) deficiency.
- Elevated homocysteine (Hcy) levels cause significant vascular and neurological complications.
- Current treatments including vitamin B6, methionine restriction, and betaine are often inefficient.
Purpose of the Study:
- To review recent therapeutic advances for homocystinuria.
- To explore novel strategies beyond conventional treatments.
- To aid clinicians in developing effective therapies and drugs.
Main Methods:
- Literature review of recent research on homocystinuria treatment.
- Focus on emerging therapeutic approaches.
- Analysis of strategies targeting Hcy accumulation and toxicity.
Main Results:
- New strategies include functional restoration of mutant CBS.
- Enhanced clearance of homocysteine from the body is a key area.
- Prevention of homocysteine-induced toxicity and oxidative stress are actively pursued.
Conclusions:
- Current homocystinuria treatments are insufficient.
- Emerging strategies offer promising therapeutic avenues.
- Further research is needed to develop novel drugs and effective clinical strategies.
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