Question

Phenylketonuria (PKU) is a disease in humans where the function of the enzyme phenylalanine hydroxylase is impaired by mutation of the human PAH gene. Untreated, individuals with PKU can have intellectual disability, behavioral problems, and seizures. However, people who eat a diet low in phenylalanine can lead a normal life. What terms describe PKU as a trait

Answer 1

Pleiotropy refers to the phenomenon of a single gene affecting multiple traits. Phenylketonuria is an example of Pleiotropy.

What is Pleiotropy?

The production of diverse effects, especially the production by a single gene of several distinct and seemingly unrelated phenotypic effects known as pleiotropy.

Phenylketonuria, generally known as PKU, is a rare hereditary condition that results in an accumulation of the amino acid phenylalanine in the body. The phenylalanine hydroxylase (PAH) gene is altered in PKU. The enzyme required to degrade phenylalanine is produced in part because of this gene. PKU can be seen to behave as a 'complex' trait.

Only 11.1 percent of MHP patients were homozygous, compared to 58.4 percent of individuals with classic PKU. Individuals with mild PKU had a compound heterozygous rate of 72.5% compared to only 35.1% in patients with classic PKU.

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