Maple Syrup Disease: Causes, Symptoms & Treatment
Maple syrup disease is a rare autosomal recessive enzyme defect that leads to degradation disorders in certain branched-chain amino acids. With early diagnosis and initiation of therapy, affected children exhibit largely normal development. What is maple syrup disease? Maple syrup disease is a rare autosomal recessive enzyme defect that leads to degradation disorders in certain … Maple Syrup Disease: Causes, Symptoms & Treatment