Maple syrup urine disease


How does maple syrup urine disease run in families?

Maple syrup urine disease is inherited in an autosomal recessive fashion. Autosomal recessive inheritance is when a mutation or change occurs in both copies of a gene, the one inherited from the mother and the one inherited from the father. The mutations do not have be same type or even in the same place in the gene. Both parents have only one copy of the gene with a mutation and do not have any related medical problems. Due to this lack of symptoms within the parents, autosomal recessive disorders can seem to appear out of nowhere within a family.

  • Maple syrup urine disease. (2013, December). Retrieved February 5, 2016, from Genetics Home Reference: GHR
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Does maple syrup disease affect more males than females?

Does maple syrup disease affect more males than females?

Maple syrup urine disease affects males and females at an equal rate. The chromosomes impacted by maple syrup urine disease are not the sex chromosomes.

  • Maple Syrup Urine Disease. (2013, May 9). Retrieved February 5, 2016, from GeneReviews: NCBI

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