Organic Acid DisordersNewborn ScreeningRUSP
Glutaric Acidemia Type I
GA-I
GA-I is caused by glutaryl-CoA dehydrogenase deficiency and predisposes to striatal injury and dystonic movement disorders, especially during febrile illness in infancy. Lysine and tryptophan restriction and emergency care during illness aim to prevent neurologic damage. Newborn screening supports presymptomatic intervention.
- Prevalence
- 1 in 100,000
- 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.