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What chromosome is affected in msud (maple syrup urine disease)?

2 doctors weighed in
Dr. Scott McLean
Clinical Genetics
1 doctor agrees

In brief: 1, 6, and 19

Msud is caused when a tightly clustered group of proteins [branched-chain ketoacid dehydrogenase] does not work properly.
This multienzyme complex has three subunits encoded by four different genes. Three of them - on chromosomes 1, 6, and 19, have been found to have mutations that can result in msud. The msud family support group (http://www.Msud-support.Org/) has more information.

In brief: 1, 6, and 19

Msud is caused when a tightly clustered group of proteins [branched-chain ketoacid dehydrogenase] does not work properly.
This multienzyme complex has three subunits encoded by four different genes. Three of them - on chromosomes 1, 6, and 19, have been found to have mutations that can result in msud. The msud family support group (http://www.Msud-support.Org/) has more information.
Dr. Scott McLean
Dr. Scott McLean
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