Organic Acid DisordersNewborn ScreeningRUSP
Beta-Ketothiolase Deficiency
BKT
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase) deficiency disrupts isoleucine and ketone body metabolism, leading to ketoacidosis during fasting or illness. Treatment emphasizes avoidance of prolonged fasting, illness plans, and sometimes dietary adjustment. It is very rare but included on the RUSP for early detection.
- Prevalence
- Very rare
- 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.