Rare Disease Report

The Genetics of Phenylketuria (PKU)

AUGUST 16, 2013

Recently John Adams, CEO and President of CanPKU, a Canadian based non profit organization dedicated to promoting awareness and education of phenylketonuria (PKU) talked to Rare Disease Report about the genetics of PKU.

PKU is a rare, inherited (autosomal recessive ) metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life.
PKU is inherited as an autosomal recessive trait. In other words, two people who conceive a child must both be carriers of the gene in order for there to be a chance that their infant will have PKU. When two carriers conceive a child, there is a one in four or 25% chance for each pregnancy that the baby will have PKU.

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