Organic Acid DisordersNewborn ScreeningRUSP
3-Methylcrotonyl-CoA Carboxylase Deficiency
3-MCC
3-MCC deficiency is a disorder of leucine metabolism that may be asymptomatic in many screen-positive infants but can cause hypoglycemia, vomiting, or developmental concerns in others. Management typically involves cautious protein intake and avoidance of catabolic stress, guided by biochemical monitoring. Universal screening identifies cases that might otherwise present only after illness.
- Prevalence
- 1 in 36,000
- 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.