Flashcards in Errors of Inborn Metabolism (Maple Syrup Urine Disease) Deck (4)
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1
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.
2
What are the complications of this disease?
Severe Mental Retardation, CNS defects and death.
3
Why is this disease called what it is?
As the name implies, patient's urine will smell like maple syrup.
4