Phenylketonuria PKU By: Savana Couch  |
| Causes: This genetic disorder is caused by a mutation in a gene on chromosome 12. This gene codes for a protein called phenylalanine hydroxylase or PAH, which is an enzyme in the liver and breaks down the amino acid phenylalanine into other products the body needs. When the gene is mutated it changes shape of the PAH protein and because of this change the protein can no longer break down phenylalanine properly. |
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| Inheriting: It is possible for the parents of a child with PKU to have a defective gene, but not have the disorder(just carriers of the disease). Most often PKU is passed to children by parents who are carriers and they don't know that they are. If both parents carry one copy of the faulty gene, each of their children have a 25% chance of being born with the disease. Also if the disease is not treated shortly after birth, it can be destructive to the nervous system, which can cause mental retardation. |
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| Symptoms: The symptoms of PKU are mental retardation, behavioral or social problems, seizures, tremors, or jerking movements in the arms or legs, hyperactivity, stunted growth, skin rashes, small head size, a musty odor in a child's breath, skin, or urine, fair skin, and blue eyes. |
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| Food: When you have PKU you should avoid high protein foods, such as milk, eggs, cheese, nuts, soybeans, beans, chicken, steak, pork, fish, chocolate candy, peas, beer, and diet soda. Also avoid medicines with aspartame (Nutra Sweet and Equal). You should also limit food portions of low protein foods, like fruits, vegetables, and desserts. For children/babies with this disorder they have special formula. |
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| Support Groups: There are 3 National support groups. The National PKU Alliance, Unified to Support Metabolic Disorders Cosmo-PKU, and Children's PKU Network. Then there are regional groups. There are several of these in the United States, but there aren't any in Ohio. |
 Coping: To live with PKU you should be informed about this disorder and know what to do, get help from other families, maintain a positive food attitude, and if your child has PKU, talk to there teachers and other staff at there school.  |
| Treatments: The main PKU treatment is a strict diet with very little intake of phenylalanine. Another type of treatment is a supplement called neutral amino acid therapy powder or tablets. This supplements blocks the absorption of phenylalanine. Also there is a drug that has been approved by the FDA called Sapropterin or Kuvan. Kuvan is currently being studied because they do not know the drugs efficiency and long term safety.
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