Description
Phenylketonuria is a birth defect in which a mutation in the gene order to make theenzymes necessary to break down the amino acid phenylalanine. Amino acids are the building blocks for proteins, but too much phenylalanine can cause various health problems. People with phenylketonuria (PKU) - both infants, children and adults -should follow a diet restricting phenylalanine, which is mostly found in high protein foods.
Symptoms
Newborns with phenylketonuria initially did not have any symptoms. Without treatment,infants who suffer from this disorder will show signs within a few months. In general,mild or severe symptoms than other gantara Phenylketonuria:
* Mental Retardation
* Behavioral or social problems
* Seizures, tremors or movement in the arm and foot stomping)
* Hyperactivity
* Growth is hampered
* skin rash (eczema)
* Size small head (microcephaly)
* breath, skin or urine musty odor is caused by too much phenylalanine in the body
Treatment
Treatment of Phenylketonuria is a strict diet with very limited intake of phenylalanine,which is found mostly in foods that are rich in protein. The number of safephenylalanine different for each person. Your doctor will determine the amount that is safe through regular diet review records, growth charts and the levels ofphenylalanine. Blood tests can often help monitor jumalh phenylalanine