Phenylketonuria

About PKU, Symptoms, and How to deal with it

What is PKU?

What is PKU you might be wondering, you may have been recently diagnosed with PKU, or maybe you are just here to learn a little bit of information about the disorder. Lets start off with exactly what Phenylketonuria, or PKU is. PKU is a rare inherited metabolic or chromosomal abnormality on chromosome twelve characterized by the inability of the body to utilize the essential amino acid, Phenylalanine. In few as words as possible, PKU is a genetic disorder that may affect you and your life style. If you have the disorder you most likely known you've had it your whole life. People are tested for PKU when they are a new born. The doctors either screen your bones for it or take a blood sample from their heel of the foot.

Symptoms of PKU

If you think you have PKU or DO have PKU here are some symptoms to look for. Anyone with PKU may suffer from epilepsy. Physical changes may be that your skin, hair, sweat, and urine will have a musty smell to them. Anyone with PKU may also have light coloration meaning blonde hair and blue eyes. Also small skeletal make ups, such as: small head, short stature, flat feet. Other areas of the body may twitch such as your arms of legs. Unusual hand positioning is also common. On the more severe side is learning disabilities.

How To Deal With PKU

Many questions may come up when dealing with PKU. First off people with PKU eat diets with many high protein foods to maintain Phe levels. More recently a new drug has been tested (Kuvan). It is used to cause residual enzyme activity to work harder to maintain Phe levels in the blood stream.

History of PKU

On May 24-27, 1934 Dr. Asbjorn Folling was studying two children who were intellectually impaired, motor impaired, and had skin abnormalities. He determined when he took a urine sample that there was a clear excretion of phenylpyruvic acid. Discovering this would later help us understand more about other genetic disorders, human metabolism, and brain development.

Dr. Ivar Asbjorn Folling

The discoverer of PKU. PKU is discovered on May 24-27, 1934.