Maple syrup disease

NEET PG
#1

Maple syrup disease

🡪 It is a rare genetic autosomal recessive metabolic disorder affecting branched-chain amino acids

  • Valine, leucine, isoleucine

  • ↑Branched chain keto acids

  • Succinyl CoA & Acetyl CoA

🡪 Fatal Ketoacidosis, Mental retardation, Maple syrup urine odor, ↑ α – keto acids & α- hydroxy acids in blood

🡪 Diet lacking in branched chain amino acids