Errors of Inborn Metabolism (Maple Syrup Urine Disease)

Question 1

Generally describe the pathology of Maple Syrup Urine Disease?

Answer 1

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.

Question 2

What are the complications of this disease?

Answer 2

Severe Mental Retardation, CNS defects and death.

Question 3

Why is this disease called what it is?

Answer 3

As the name implies, patient’s urine will smell like maple syrup.

Question 4

Mnemonic to remember the defects of this disease?

Answer 4

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.