Vikki+S.



Phenylketonuria (PKU) is a birth defect in which a mutation occurs in a gene containing instructions for making the enzyme needed to break down the amino acid, phenylalanine. A person who has too much phenylalanine can cause serious health problems. People that have this disease should have a diet which limits the amount of phenylalanine, which is mainly found in high protein foods. Phenylketonuria is a type of hyperphenylalaninemia, a genetic condition and is also classified as a autosomal recessive disease. This disease is caused by a mutation on the PAH gene. Without the enzyme, a buildup of this amino acid can develop when a person with PKU eats foods that are high in protein. In order for a child to inherit this disease, both the father and the mother must have and pass on the defective gene. Newborns are usually screened soon after birth for this disease. Although this disease is rare, finding it sooner can help limit health issues. Newborns with this disease don't usually have symptoms, but symptoms can develop over the first few months.

Children with classic PKU usually develop obvious, permanent mental retardation and behavioral problems by their first birthday. Mild or moderate PKU has a smaller risk of signifigant brain damage, but children still need to have a special diet to prevent mental retardation. A woman with PKU has another form called maternal PKU. Babies born to mothers with PKU may have complications at birth. Most don't actually inherit PKU but can still suffer from mental retardation, and small head size. They may also have heart defects, and low birth weights. Women with PKU can prevent birth defects by sticking to a low phenylketonuria. A child's genetic make-up holds the possibility of inheriting PKU. Both parents must pass along a copy of the mutated gene for their child to develop this condition. This gene defect occurs mainly in caucasion backgrounds, but less common in other ethnicities. It is most common in Turkey, where 1 in 2,600 infants are affected. The main treatment is a strict diet with very little intake of phenylalanine, which is mostly found in protein-rich foods. The idea is to consume only the amount of phenylalanine thats necessary for normal growth and body processes, but no more. Women with PKU can prevent birth defects by sticking to a low phenylalanine diet before becoming pregnant.
 * These symptoms may include:
 * mental retardation
 * behavioral or social problems
 * seizures, tremors or jerking movements
 * rocking
 * hyperactivity
 * stunted growth
 * skin rashes
 * small head size
 * vomiting
 * odor in child's breath, skin, or urine
 * fair skin and blue eyes || [[image:mayoclinic.jpg width="261" height="236"]] ||

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Sources: __Mayoclinic__. 31 Mar. 2009 []. __Medicinenet__. 1 Apr. 2009 []. __National Society for PKU__. 5 Apr. 2009 []. __Youtube__. 5 Apr. 2009 [].