Phenylkentouria

Josh Grell

What is Phenylkentouria? (Pku)

Phenylkentouria is a rare, inherited, single gene mutated metabolic disorder based on the persons disability to utilize the essential amino acid, Phenylalanine. It was discovered by Dr. Asbjorn Folling in 1934.

Symptoms of Phenylkentouria (Pku)

Phenylkentouria is a very serious disorder and though it doesn't effect life expectancy when left unattended, it can lead to very serious symptoms. Some of these symptoms consist of Epilepsy, small head, short height, flat feet, eczema, uncontrollable tremors, and severe brain problems. It also can lead to extreme learning disabilities and behavior problems.

Pictures of symptoms

How is Phenylkentouria (Pku) inherited?

This disorder is a recessive trait. This disorder for the most part is uncommon. It is located on chromosome 12. It occurs to mostly newborns, but once detected it is treated as soon as possible, therefore it rarely makes its may into people older stages in life.

Are there any diagnostics are performed to determine an individuals disorder?

There are screenings for children when they are born to determine whether they have the disorder, what is the severity of it, and provides treatment for it. Other than the screenings for newborns, there are several tests done to discover whether they have the disorder or not.

Is there any way to prevent this disorder?

Due to Pku being an inherited disease, it would mean the parents that are passing their genes to the child would have to follow a low-phenylalanine diet. It would also mean that if you know you have the disease, then keep a low-protein diet for provention and deletion of the disease. Doctors are currently working on a drug that can help manage Pku called saproterin. Genetic counseling is also an option.

Are there any support groups in existence to help individuals or families with this genetic disorder?

There are several Pku alliances that are in existence to help people or families with this disorder such as "The National Pku Alliance." This organizations fund a lot of money for research and medication for individuals suffering with Pku. They are a non-profit organization that wants to help men and women suffering from the disease and ensure relief to parents or guardians helping someone through it.