Flashcards in Errors of Inborn Metabolism (Maple Syrup Urine Disease) Deck (4)
Generally describe the pathology of Maple Syrup Urine Disease?
Decreased levels of Alpha Ketoacid Dehydrogenase, and as a result there is blocked degradation of branched amino acids (Ile, Leu, and Val) --> Alpha ketoacids levels increase in blood, specifically Leucine.
What are the complications of this disease?
Severe Mental Retardation, CNS defects and death.
Why is this disease called what it is?
As the name implies, patient's urine will smell like maple syrup.