Taylor+C.

 ** Phenylketonuria ** Phenylketonuria is a disorder that is otherwise known as PKU. It is an Autosomal Recessive disorder, which means two copies of an irregular gene are found. The mode of inheritance is from an error of metabolism caused by a shortage in the enzyme phenylalanine hydroxylase. Mutation in the PAH gene is the cause of PKU. It effects about one of every 10,000 to 20,000 caucasian and East Asian births. Some ethnic groups have a higher and lower rate of getting it. African Americans have a far less chance of getting PKU, but they are equally found in males and females. This disorder is detected by newborn screening in the United States and other countries. If PKU is not treated, they could have severe mental retardation. One percent of mental retardation incidences come from having phenylketonuria. Treatment for phenylketonuria is done by about 3 days of birth, every state now screens the blood phenylalanine level. This is one of several blood screenings done before they are discharged from the hospital. They take the test by pricking the child at the bottom of the heal and place the blood on a card. Then later send it for screening. This test shows that there can be early treatment and identification of it. The main purpose of treatment is to maintain the blood level of phenylalanine. The phenylalanine level should be between 2 and 10mg/dl. Some of this phenylalnine is needed for normal growth. So to keep this phenylalanine balance, they have to eat a diet with less than normal phenylalanine amount in it. High-protein foods would be avoided, and substitutes would be put in place.  ** Symptoms ** Symptoms from PKU range. They can be mild or severe. A severe case would be that infants at first may look normal, but after a few months develop mental retardation. Along with this there could be slow development, heart problems, seizures, and/or movement disorders. More visual symptoms would be that children with PKU have lighter skin and hair. Since they have this lighter skin they might develop eczema, which is a skin rash. They might even have an musty odor from this over dosage of phenylalanine. Brain damage is less common if you have a less severe form of PKU. Mental Retardation is more common when they have a more severe form. The enzyme phenylalanine is the cause of mental retardation because the infant is over exposed to enzyme before birth.

Support groups would be: The Mayo Clinic, medline plus, and the march of dimes. media type="youtube" key="rHh0yhBYBbI" height="344" width="425"

Work Cited "PHENYLKETONURIA (PKU)." __Medical Information & Answers to Medical Questions - MedHelp__. 6 Mar. 1986. 27 Mar. 2009 < [] >. "Phenylketonuria." __Genes and diseases__. 16 Oct. 2008. NCBI. 7 Apr. 2009. "Phenylketonuria." __MayoClinic.com__. 20 Dec. 2007. Mayo Clinic. 7 Apr. 2009.

"Phenylketonuria." __MedecineNet.com__. Government. 7 Apr. 2009.