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What is The most appropriate treatment for Homocystinuria is and explain in detail?
Treatment with high doses of vitamin B6 (200-1,000 mg/24 hr) causes a dramatic improvement in most patients who are responsive to this therapy. The degree of response to vitamin B6 treatment may be different in different families. Some patients may not respond because of folate depletion; a patient should not be considered unresponsive to vitamin B6 until folic acid (1-5 mg/24 hr) has been added to the treatment regimen. Restriction of methionine intake in conjunction with cysteine supplementation is recommended for patients who are unresponsive to vitamin B6.Reference: Nelson Textbook of Paediatrics; 20th edition; Chapter 85; Defects in Metabolism of Amino Acids