What plasma homocysteine level indicates good control?

Treatment target is total homocysteine 100 μmol/L significantly increases thromboembolism risk.

How is pyridoxine responsiveness defined?

Pyridoxine-responsive homocystinuria is defined as ≥50% reduction in plasma homocysteine with high-dose pyridoxine (100-500 mg/day); ~50% of CBS-deficient patients respond.

What are the major complications of homocystinuria?

Major complications include ectopia lentis (early), osteoporosis, Marfanoid habitus, intellectual disability (without treatment), and thromboembolic events (main cause of mortality).

What is the role of betaine in non-responders?

Betaine (trimethylglycine) remethylates homocysteine to methionine via betaine-homocysteine methyltransferase; effective in pyridoxine non-responders but raises methionine levels.

Should anticoagulation be used prophylactically?

Low-dose aspirin and/or anticoagulation during high-risk periods (surgery, immobility) is recommended; long-term anticoagulation is individualized based on prior thrombotic events.

Homocystinuria Treatment Response Calculator

Assesses treatment response in homocystinuria (CBS deficiency) by calculating total plasma homocysteine normalization, pyridoxine responsiveness, and thrombosis risk reduction targets.

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Frequently Asked Questions

What plasma homocysteine level indicates good control?

How is pyridoxine responsiveness defined?

What are the major complications of homocystinuria?

What is the role of betaine in non-responders?

Should anticoagulation be used prophylactically?