Question

What is the cause of PKU?

A) Mom protein diet
B) Defect on the PAH gene
C) Drug use by mom
D) Defect in chromosome

Answer 1

PKU is caused by a genetic defect on the PAH gene, leading to the improper breakdown of phenylalanine due to insufficient activity of phenylalanine hydroxylase, resulting in toxic accumulation and damage to the nervous system.

Step-by-step explanation:

The cause of Phenylketonuria (PKU) is a defect on the PAH gene. PKU is a genetic disorder that affects about 1 in every 15,000 births in the United States. Individuals with PKU lack sufficient activity of the enzyme phenylalanine hydroxylase, crucial for breaking down the amino acid phenylalanine into tyrosine. Due to this enzymatic deficiency, phenylalanine accumulates to toxic levels, causing damage to the brain and central nervous system. Symptoms can include intellectual disability, seizures, and skin rashes, among others. Management of PKU involves following a strict diet low in phenylalanine to prevent symptoms and damage to the body.