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).

Filipino MD

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