It is defined as the hereditary condition which is occur due to the mutation in the gene which coding enzyme which is used in the breakdown of amino acid phenylalanine due to which phenylalanine start accumulating in the body.


Signs and symptoms of phenylketonuria includes:Phenylketonuria  symptoms causes  Treatment

  • Skin rashes
  • Intellectual disability
  • Delayed development
  • Microcephaly
  • Neurological problem
  • Musty odor in urine and in breath
  • Hyperactivity
  • Fair skin
  • Blue eyes
  • Mental disorder
  • Social disability
  • Seizures

This disorder occurs due to the defect in the gene which causes deficiency in enzyme which is needed to breakdown the amino acid phenylalanine. This amino acid present in protein rich diet including milk, nuts, meat or cheese etc.


If left Untreated PKU may lead to the following complications:

  • Developmental problems
  • Neurological problems
  • Tremors
  • Emotional disorder
  • Behavioral issues

If there is family history of such disorder then your doctor might recommend you screening test during or before pregnancy. In newborn blood test confirm the diagnosis.


The first line treatment for this condition includes:

  • Cut the protein intake
  • Take special supplement which does not include phenylalanine
  • Stick to your diet plan
  • Take formula milk which excluded phenylalanine
  • Frequent blood screening recommended to check the phenylalanine level
  • Avoid certain foods like chicken, milk, nuts, soyabeans, eggs etc.
  • Medications for PKU include sapropterin which increase the tolerance to amino acid.
  • Exercise daily
  • Give neonatal and toddler formula milk which does not include phenylalanine.
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