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Phenylketonuria

Phenylketonuria Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, tyrosine, it can create other enzyme routes that build up in the blood stream and body tissue. This can be extremely harmful to the body and its development. This disease is caused by missing the enzyme phenylalanine hydroxylase, this enzyme is the one that normally breaks down phenylalanine. It is rare for this enzyme to be completely absence, but this form leads to the most severe mental retardation and neurological problems. Most cases occur when this enzyme is deficient and the amount of phenylalanine is slightly higher than usual amount in the circulatory system of a person. This is called hyperphenylalaninemia.. These disorders are different than normal PKU. PKU occurs immediately when a child is born. The child appears to be completely normal, but can have blue eyes and can have fairer skin and hair than the rest of its family members. If PKU is unidentified early in an infants life they can have early symptoms which can be identified. Half of untreated babies while develop symptoms such as vomiting, irritability, an eczema-like rash, and a mousy odor to their urine (Bellenir 69). They can also have nervous system problems. Increased muscle tone, and very active tendon reflexes occur from these problems. Soon after they start to undergo mental problems. These problems are severe mental retardation and seizures among other things. Other indications are a smaller head than usual, prominent cheek and upper jaw bones with widely spaced teeth, poor development of tooth enamel, and decreased body growth(Bellenir 69). PKU is passed on in a “autosomal recessive” gene. This means that a person may have one of the genes for the disease but if they have the other dominant gene they will not be affected by the disease. In the diagram ‘P’ is the dominant gene and ‘p’ is the recessive gene. People who have one recessive gene and one dominant gene ‘Pp’ are called silent carriers. The person with ‘PP’ does not have any of the PKU gene. The person with ‘pp’ has PKU. Each time two carriers reproduce the chances the baby of having PKU is 25%. The chances of them being a silent carrier is 50%. One in every about fifty people in the general population are carriers. And the chances of that carrier’s mate is a carrier is about one in 2500. PKU occurs in about one of out every 10,00 babies born in the United States. Incidents of this disease occur equally in male and female babies. Screening for PKU is now done in every state for all newborn babies. The test, called the heel stick test, is done at about three days old, to get early detection. Early detection is the key when treating PKU. If at an early age the baby’s diet is changed to avoid phenylalanine, a baby who was once destined to become severely mental retarded, now can live their lives fully without any symptoms of the disease. A baby who has PKU must immediately be kept away from foods containing protein, because protein contains high levels of phenylalanine. Babies are fed with a protein formula that contains no phenylalanine. This formula is very expensive, but some states have mandated Breast milk and infant formulas are used sparingly only allowing the amount of phenylalanine that can be tolerated by the baby’s body. Later, certain vegetables, fruits, some grain products and other low-phenylalanine foods are added to the diet, but no regular milk, cheese, eggs, meat, fish and other high protein foods are ever allowed. Since protein is essential for normal growth and development, the child must continue to have one of the special formulas which are high in protein and essential nutrients, but contain little or no phenylalanine. It was once thought that once a child reached the age of about 10 or 12 they could be removed from the diet. Now most experts recommend that the diet be strictly followed for the person’s entire life: However it is now known that stopping the diet can result in a variety of serious problems. These include drops in IQ, learning disabilities, behavior problems such as hyperactivity and irritability, neurological problems such as tremors, eczema (a skin disorder) and personality disorders (including schizophrenia, panic attacks, and agoraphobia). (Schuett) A huge concern for women with PKU is maternal PKU. Many women who are now becoming of child bearing age have stopped their diets. They have done this because at that time when they were about 10 or 12 doctors felt it was alright to stop the diets. If they are planning to have a baby they will need to get back on the diet to reduce their phenylalanine levels. If the baby is conceived while they are still off the diet and have high phenylalanine levels it could be disastrous to the development of the child. The phenylalanine is very harmful to the fetus and many of the babies born to mothers with PKU who are off the diet have many problems. These problems include mental retardation, physical growth problems, smaller heads than usual, and heart disorders (Schuett). These problems can be avoided if the mother brings her phenylalanine level down before becoming and keeping it down during pregnancy. Another problem for children with PKU is becoming ill. When a child becomes ill their phenylalanine level rises, which can become somewhat harmful to the child. When a person’s body becomes infected with an illness it needs more energy. This energy can come from extra food, or the body takes it from the protein stored in muscles. As the body breaks down the protein the phenylalanine level goes up. This is, luckily, only temporary and won’t cause long-term problems for the child, but can make it difficult to get the child to recover from their illness. Bibliography: Works Cited Page Bellenir, Karen. Genetic Disorder Sourcebook: Basic Information about Heritable Diseases and Disorders Such As Down syndrome, PKU, Hemophilia, and Von Willebrand Disease. Detroit: Omnigraphics, 1996. Flore, Leigh Anne. “A Place of Our Own.” Alison Markowitz. February 2, 2001. University of Minnesota. April 15, 2001. Gleason, Sally and Sandy Van Calcar. “When Your Child is Ill.” January 1997. PKU Organization of Wisconsin. April 15, 2001. McKusick, Victor A. “Phenylketonuria.” February, 2001. OMIM. April 17, 2001. Schuett, Virginia. “What is PKU?” July 2000. National PKU News. April 15, 2001. Wessel, Kenneth W. A Journey Into the World of PKU. New York: Avon Books, 1991.

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