Phenylketonuria ( PKU )

Alquandre Parker

What is Phenylketonuria?

Phenylketonuria also known as "PKU" is a rare inherited disorder that causes an amino acid called phenylalanine to build up in your body.

What causes PKU & How could you get it?

A genetic mutation causes phenylketonuria but also causes is a defect in the gene that helps create the enzyme needed to break down phenylalanine. Both the mother and father must have and pass on the defective gene for a child to acquire or get PKU. Children and adults with treated PKU are often faced with certain adverse effects of the disorder in work and school.

Can it be prevented?

Yes, Phenylketonuria can be prevented. Way it prevent it is to Follow a low-phenylalanine diet & Consider genetic counseling. But this goes for if your are woman planning to have a baby.

Symptoms and Effects of PKU

Newborns with phenylketonuria initially don't have any symptoms but without treatment, babies usually develop signs of PKU within a few months. PKU for a person mild or severe can be Intellectual disability, Delayed development, Behavioral, emotional and social problems, Hyperactivity, Poor bone strength, and many more. A woman with PKU and planning to have a baby have similar symptoms such as Delayed development, Heart defects, Behavioral problems, Low birth weight etc.

How can PKU be detected?

Newborn blood testing identifies almost all cases of phenylketonuria. Newborns must require to be screened for PKU. If you have PKU or a family history of it, your doctor may recommend screening tests before pregnancy or birth. It's possible to identify PKU carriers through a blood test.

Treatment for PKU?

Right now there are two treatments for PK. These two treatments are taking a lifetime diet with very limited intake of protein and taking a PKU formula. Theres also foods which a person with PKU must to avoid with high-proteins. Some of these foods are Eggs, Milk, cheese, Fish, etc.