Phenylketonuria (PKU) is a genetic disorder characterized by an inability to metabolize the amino acid phenylalanine properly. This condition affects approximately one out of every 10,000 to 15,000 newborns.
PKU is caused by a mutation in the gene responsible for producing an enzyme called phenylalanine hydroxylase (PAH). It breaks down phenylalanine, an amino acid found in protein-rich foods. In the absence of PAH, phenylalanine accumulates in the body, causing a variety of health problems.
PKU symptoms can range in severity and include:
Disabilities intellectuals
Development delayed
Problems with behavior
A seizure
Anxiety
There are tremors
Rashes on the skin
Pigmentation of the skin and hair is lighter
Breath, skin, and urine with a musty odor
PKU is typically detected through newborn screening programs, which involve a simple blood test shortly after birth. An elevated level of phenylalanine in the blood indicates PKU. In order to confirm the diagnosis, additional blood tests and genetic testing may be conducted.
Those with PKU need to follow a strict dietary management regimen. They need to eat a low-protein diet that is restricted in phenylalanine. Often, this involves consuming specially formulated medical foods and supplements that provide all the necessary nutrients without consuming too much phenylalanine. To ensure dietary adherence and adjust treatment as necessary, blood phenylalanine levels must be monitored regularly.
For mild cases of PKU, medications may be prescribed to help lower phenylalanine levels or enhance phenylalanine metabolism, including sapropterin dihydrochloride.
As PKU is a genetic disorder, there are no known methods for preventing its occurrence. However, genetic counseling can be beneficial for individuals with a family history of PKU or those who carry the gene mutation. PKU risk can also be determined prenatally through prenatal testing.
