Phenylketonuria

= Phenylketonuria =

= = =What is Phenylketonuria? =

Phenylketonuria also called PKU, is an inherited genetic disorder that causes an amino acid called phenylalanine. This is caused by a defect in the gene that helps produce an enzyme needed to break down the protein. If a person has PKU their phenylalanine levels can build up when they eat proteins and this can lead to serious health problems. People with PKU or Phenylketonuria are forced to maintain a strict diet which limits their phenylalanine intake.



How do you get Phenylketonuria?
 Phenylketonuria is an autosomal recessive allele. This means that in most cases both parents of a PKU patient have a gene for PKU. Phenylketonuria is developed in newborns and can be lifelong or last for years. In many countries, they now screen for PKU when babies are born.

Symptoms of Phenylketonuria
Although a baby can be born with PKU the symptoms don't appear for a few months. However, without treatment, these infants will develop mental retardation and behavioral problems. Other common symptoms of untreated classic PKU include seizures, developmental delay, and autism. Boys and girls who have classic PKU may also have eczema of the skin and lighter skin and hair than their family members who do not have PKU.

Different Cases of Phenylketonuria

 * Classic PKU. The most severe form of the disorder is called classic PKU. The enzyme needed to convert phenylalanine is missing or severely reduced, resulting in high levels of phenylalanine and severe brain damage.
 * Less severe forms of PKU. In mild or moderate forms, the enzyme retains some function, so phenylalanine levels are not as high, resulting in a smaller risk of significant brain damage

Work Cited: >  >
 * https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302
 * https://ghr.nlm.nih.gov/condition/phenylketonuria