Errors of Inborn Metabolism (Maple Syrup Urine Disease) Flashcards Preview

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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

Mnemonic to remember the defects of this disease?

I Love Vermont, maple syrup from maple trees (with branches). Ile, Leu and Val are the Amino Acids that are blocked and these are all branched amino acids.