Amino Acid DisordersNewborn ScreeningRUSP
Homocystinuria
HCY
Classic homocystinuria most often results from cystathionine beta-synthase deficiency and elevates homocysteine and methionine, predisposing to thromboembolism, ectopia lentis, and developmental issues. Treatment may include dietary methionine restriction, betaine, and vitamin B6 responsiveness in some genotypes. Newborn screening allows initiation of therapy in the first weeks of life.
- Prevalence
- 1 in 200,000-300,000
- Inheritance
- Autosomal recessive
- Screened at Birth
- Yes
- On RUSP
- Yes (Recommended Uniform Screening Panel)
About This Data
This disorder is part of the Cureledger rare disease data corpus. We are building privacy-preserving natural history datasets and advocacy tools for rare disease communities. Data is maintained by clinical advisors and the patient community.