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Maple Syrup Urine Disease
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Maple Syrup Urine Disease (MSUD) is an
inherited disorder so named because one of its first signs
is urine that has an odor reminiscent of maple syrup. The
underlying defect disrupts the metabolism of certain amino
acids. These are amino acids that have a branched side chain.
Because they cannot be fully broken down, they accumulate
in the urine, along with their metabolites (alpha-ketoacids)
to give the distinctive smell. Left untreated, there is progressive
neurodegeneration leading to death within the first months
of life.
Three amino acids have branched side chains:
valine, leucine, and isoleucine. They are an essential element
in the diet and are broken down by the body to yield energy.
One step in this breakdown involves the branched-chain alpha-ketoacid
dehydrogenase (BCKDH) complex, which consists of three catalytic
components and two regulatory enzymes. In total, six gene
loci encode for the BCKDH, and mutations in different loci
are responsible for the genetic variety seen in MSUD.
The Mennonite community of Lancaster County,
Pennsylvania is particularly afflicted by MSUD, with over
1 of 176 individuals affected. This is due to a high carrier
rate of a mutation in the E1alpha-subunit of the BCKDH complex.
By contrast, the disease is rare in the general population.
Currently treatment consists of restricting
the dietary intake of branched-chain amino acids to the absolute
minimum that is needed for growth. However, studies have already
shown that it is possible to transfer subunits of the BCKDH
enzyme into cells using a retrovirus. Similar advances in
gene therapy may provide a future cure.
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