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Phenylketonuria (PKU). By: Lynn Reynolds. How is PKU Inherited?. PKU is an autosomal recessive trait Both parents must be carriers of the trait for the child to show symptoms If both parents are carriers, the child has a 25% chance of having the disease.

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phenylketonuria pku

Phenylketonuria (PKU)

By: Lynn Reynolds

how is pku inherited
How is PKU Inherited?
  • PKU is an autosomal recessive trait
  • Both parents must be carriers of the trait for the child to show symptoms
  • If both parents are carriers, the child has a 25% chance of having the disease
slide3

PKU is caused by a mutation of a gene on chromosome 12

  • This gene is responsible for coding for the protein phenylalanine hydroxylase (PAH)
clinical description
Clinical Description
  • PAH is necessary for turning the amino acid phenylalanine into the amino acid tyrosine
  • In people with PKU, this does not happen and phenylalanine builds up in the body
slide5

The phenylalanine stored up in the body causes damage to the central nervous system

  • This can lead to moderate to severe mental retardation
symptoms
Symptoms
  • If PKU is not detected early, the symptoms are severe and irreversible
  • These symptoms include seizures, hyperactivity, vomiting, moderate to severe mental retardation, and light coloring
  • If the disease is caught early, symptoms may never occur
who gets pku
Who gets PKU?
  • PKU tends to be more common in people of Turkish, Yemenite Jewish, northern and eastern European, Italian, and Chinese descent
detection
Detection
  • PKU can be detected at birth before there are any symptoms
  • Hospitals routinely screen newborns to check if they have the disease
  • The test indicates elevated levels of phenylpyruvic acid in the blood
treatment
Treatment
  • Treatment for PKU involves following a specific diet
  • Foods with protein contain phenylalanine so cannot be eaten
  • The best foods for people with PKU are fruits and vegetables
slide10

There is a special formula for people with PKU

  • This formula contains protein and other vitamins and minerals but no phenylalanine
  • This is the most important part of the diet
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