Organic Acid DisordersNewborn ScreeningRUSP
Methylmalonic Acidemia
MMA
Methylmalonic acidemia encompasses defects in methylmalonyl-CoA mutase or cofactor metabolism, leading to methylmalonic acid buildup and recurrent metabolic decompensation. Presentation ranges from neonatal encephalopathy to later-onset episodes under physiological stress. Newborn screening permits early diet, medication, and in some cases transplant evaluation.
- Prevalence
- 1 in 50,000-100,000
- 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.