Phenylketonuria, otherwise known as PKU, is an inherited rare disorder that causes a buildup of the amino acid phenylalanine in the body. PKU is caused by a defect in the gene that usually breaks down phenylalanine (Orphanet). A dangerous build up of of phenylalanine can occur when a person with PKU eats foods high in protein. This can lead to serious medical problems (mayo). There are certain tests and techniques used to diagnose Phenylketonuria. People who inherit this disease exhibit certain symptoms and should be treated accordingly. .
Phenylketonuria is an autosomal recessive trait. This means both the mother and father must have and pass on the defected gene for a child to inherit it. It is possible for a parent to be a carrier of the gene, but not have the disease. The good news is if only one parents has the gene it cannot be passed on to a child (Patel). Babies born with PKU do not immediately exhibit symptoms. Symptoms will begin to appear after a few months if the child is not treated. Some symptoms include mental and social delays, psychiatric disorders, poor bone strength, a smaller head size, skin rashes, hyperactivity, and seizures (mayo). Because phenylalanine plays a role in the production of melin, this may cause a child with the condition to have lighter eye, hair, and skin color (Patel). The most severe form of PKU is called classic PKU. There are also less severe forms of PKU that still may have risks, but nothing as significant as brain damage (mayo). PKU can be detected by a simple blood test. A PKU screening test is required for all babies born in the U.S. A few drops of blood is taken from a baby's arm or heel as a sample to diagnose PKU (mayoclinic). If the test comes back positive additional blood and urine tests are taken to confirm the diagnosis (Patel). If your family has history of PKU a doctor may recommend a screening for the disease during pregnancy. .
The main treatment for Phenylketonuria is a lifetime diet including a very limited intake of phenylalanine.