PKU is due to mutation in the Phenylalanine Hydroxylase(PAH) gene. Both parents must pass down a copy of the mutated gene for their child to develop the condition. If only one parent has the PKU gene, the child is a PKU carrier. Therefore, it is an autosomal recessive trait.
The function of the PAH gene is to provide information for the production of an enzyme called phenylalanine hydroxylase. This enzyme converts phenylalanine to other important substances in the body.
The gene defect occurs mainly in people from Europe and the U.S. It is less common in Asians and Latinos. Africa has the lowest rates of PKU.
Mothers who have PKU but refuse to follow the recommended diet during pregnancy may affect their unborn child due to accumulation of phenylalanine in the mother's blood.
Hi.
ReplyDeleteDoes the mutation stop the production phenylalanine hydroxylase? Is the PAH gene "switched off" as a result of the mutation?
Yes that could be the reason but it can also be due to non-functional phenylalanine hydroxylase being synthesized. Yes, you can say that.
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