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A member asked:
What chromosome is affected in msud (maple syrup urine disease)?
3 doctors weighed in across 2 answers
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.
Answered 12/9/2013
5.8k views
Chromosome 19: Msud results from a defect in chromosome 19 in one if the 6 subunit genes in the bckhda complex.
Answered 11/22/2012
5.5k views
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