Maple Syrup Urine Disease
- Autosomal recessive.
- Blocked degradation of branched amino acids (Isoleucine, Leucine, Valine) due to ↓ branched-chain α-ketoacid dehydrogenase (B1). Causes ↑ α-ketoacids in the blood, especially those of leucine. See Metabolism (summary)
- Presentation: vomiting, poor feeding, encephalopathy, central respiratory failure, urine smells like maple syrup/burnt sugar. Causes severe CNS defects, intellectual disability, and death.
- Treatment: restriction of isoleucine, leucine, valine in diet, and thiamine supplementation.
- I Love Vermont maple syrup from maple trees (with B1ranches).