Phenylketonuria is a rare yet potentially serious disorder. It is an autosomal recessive disorder and the person inherits this disease from his parents. When both the copies of the gene known as PAH gets mutated, the concentration of the phenylalanine hydroxylase drops.
Consequently, the body is unable to catalyze the amino acid, phenylalanine. It then starts building up in the body to a toxic level and leads to brain damage. When it remains untreated, it may result in intellectual disabilities, seizures and other mental disorders. The skin of the person may also turn lighter.
The specific proteins produced by a cell are directly related to the
In the human body, the amino acid phenylalanine is normally processed
Your textbook describes how the detrimental symptoms associated with the disease phenylketonuria
We often speak of diseases such as phenylketonuria (PKU) and
