PKU

Phenylketonuria

What is it and why does it occur?

PKU is an autosomal recessive genetic disorder that is caused by a mutation in the gene that creates a vital enzyme. In autosomal recessive disorders, both parents need to carry the recessive allele in order for their child to be born with PKU. The enzyme previously mentioned is called phenylalanine hydroxylase or PAH and it is needed to convert amino acids into other substances needed for healthy development. This particular genetic disorder is located on the twelfth chromosome .

How does PKU affect the human body and what health problems are associated with it?

PKU affects the human body in many different ways, some of these ways include: Tremors, skin rashes, abnormal head size, and twitches. Along with these side affects come prolonged health problems. Some of these ailments include intellectual disabilities, seizures, hyperactivity, and delayed mental/social skills.

Who commonly gets this disease?

PKU is not biased when it comes to its victims and affects a diverse range of people. Even though race or gender is not important to PKU, age is. PKU is most commonly developed in infants from birth and a simple test is used to determine if a newborn has the enzyme, PAH, in order to develop correctly. Oddly enough, children born with PKU tend to have an overall lighter complexion when compared to their siblings. Their skin color, hair color, and eye color may appear significantly lighter and the reasoning for this is unknown.

How is PKU treated?

Fortunately, PKU can be treated or managed with a special diet. This diet consists of phenylalanine-free medically formulated fruits, veggies, bread, pasta, and cereals. Foods that are high in protein and contain large amounts of phenylalanine (PAH) should be removed from your diet. These foods include milk, dairy products, meat, fish, eggs, and beans. The target shown above is a useful diagram used to visualize the PKU diet.

Interesting Trivia

Individuals with PKU must follow the special diet or complications such as permanent and severe brain damage may occur. Pregnant women with PKU have to be extra careful in watching what they eat. If the diet is not strictly followed, then the unborn child might have health conditions such as brain damage. Oddly enough, children born with PKU have an overall lighter complexion when compared to their siblings. The reasoning for this is unknown.