What Is Phenylketonuria (PKU) ?

Phenylketonuria (PKU) is a recessive genetic disease caused by chromosomes that cause the body to synthesize adequate amounts of the enzyme phenylalanine hydroxylase (PAH). People whose bodies lack abnormal metabolic systems that PAH can not convert an amino acid common, phenylalanine, tyrosine, and possibly melanin. Therefore, phenylalanine accumulates and may affect other functions of the body. PKU occurs in about 1 in 15,000 births. PKU chromosomes are located on autosomes, so roughly the same prevalence in males and females.

HOW PKU diagnosed?

PKU diagnosis could be performed in clinics or hospitals. Characteristics and symptoms of PKU patients suffering from common include: albinism (due to insufficient amount of melanin synthesized by the body), recurrent seizures and rash.

PKU is a threat?

PKU is a non-fatal disease is treated properly. Treatment should cause little or no side effects, just the inconvenience these treatments can cause. If babies with PKU could not be diagnosed, phenylalanine buildup can become high enough to cause damage to the brain, which in turn causes mental retardation and recurrent seizures.


The phenylalanine levels must be monitored and controlled at any time. The diet should contain as little as possible phenylalanine. Search for gene therapy that eliminates the effects of the defective chromosome that causes PKU is underway.

Load disqus comments

0 komentar