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Diseases » Maple syrup urine disease » Inheritance
 

Inheritance and Genetics of Maple syrup urine disease

Genetics of Maple syrup urine disease:

Maple syrup urine disease is a genetic disorder that exhibits autosomal recessive inheritance.

Maple syrup urine disease: Genetics Information

Genetics of Maple syrup urine disease: 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. (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Maple syrup urine disease refers to whether the condition is inherited from your parents or "runs" in families. The level of inheritance of a condition depends on how important genetics are to the disease. Strongly genetic diseases are usually inherited, partially genetic diseases are sometimes inherited, and non-genetic diseases are not inherited. For general information, see Introduction to Genetics.

 

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