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Phenylketonuria: Symptoms, Cause and Treatment

What is Phenylketonuria?

Phenylketonuria is a hereditary situation in which there is absence of specific enzyme in the body characterized by and it should be treated in the time otherwise it may cause to mental retardation. In this situation body is not able to utilize the essential amino acid, phenylalanine.

Causes of Phenylketonuria

  • Phenylketonuria is occur due to hereditary disorder it means it gets through the family members only. It occurs when both parents pass defective gene to the child which is called as autosomal recessive trait.
  • It may occur when enzyme ( phenylalanine hydroxylase ) is missing which is require to break down phenylalanine which is essential to contain protein in the food.

Symptoms of Phenylketonuria

When Phenylketonuria occur to the newborn no symptoms occur s that time but if no treatment is provided then symptoms may appear. The following are the symptoms of Phenylketonuria which may be minor or severe.

  • Rashes on the skin
  • Mental retardation
  • Abnormal head size
  • Seizures and Hyperactivity
  • Fusty smell in the breath, skin and urine
  • Vomiting
  • Delay in developmental skill
  • Microcephaly
  • Tremors

Treatment of Phenylketonuria

  • Phenylalanine-restricted diet is useful to treat patient with mental retardation.
  • Blood level of phenylalanine should be maintain.
  • In food meat, fish and egg should be avoided and instead of this fruit, vegetables along with milk must be taken.
  • Lofenalac is made for the fetus to maintain amino acid.
  • Tetrahydrobiopterin (BH4) is used in some cases for treatment purpose.



Disclaimer: This site is for educational purposes only. The information provided should not be used for diagnosing or treating a health problem or disease. If you have, or suspect you have a health problem, you should consult your health care provider.