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Information of Phenylketonuria

Phenylketorunia, an uncommon hereditary genetic disorder. Phenylketorunia is caused by deficiency of an enzyme responsible for converting phenylalanine, an essential amino acid, to another amino acid tyrosine. Phenylketorunia is detectable by post natal screening of blood and urine and it is treated by controlling the intake of phenylalanine from the diet during early years of life.

Cause of Phenylketonuria

Autosomal recessive causing lack of liver phenylalanine hydroxylase. Commonest inborn error of metabolism.

Symptom of Phenylketonuria

  • Lack of pigment (fair hairs, blue eyes),
  • Retarded growth,
  • Associated epilepsy,
  • Microcephaly,
  • Eczema and
  • hyperactivity

Diagnosis of Phenylketonuria

  • Normal blood tests reveal the levels of phenylalanine.
  • The blood tests in infants are carried out for levels of phenylalanine.
  • If phenylalanine level is found abnormal or alarming, confirmatory tests using advanced diagnostic measures are carried out to confirm phenylketonuria.

Treatment of Phenylketonuria

You should carry out a routine check up for phenylalanine level in blood. A regular guidance from Nutritionist should be taken and all precautions should be taken to maintain the desired level of phenylalanine in blood. Sometimes weakness or other problems can cause the dissociation of proteins to amino acids. These factors may increase the phenylalanine levels in blood. Phenylalanine is essential amino acids and is only obtained from the food we consume.

Avoiding high protein foods, such as meat, milk, fish, eggs, cheese and chickens, can reduce phenylalanine. Depending upon the level of phenylalanine levels in blood, low phenylalanine or phenylalanine free diet is recommended. These diet restrictions has to be followed lifelong in order to develop physical and mental health to the maximum. Pregnant women with phenylketonuria should maintain the phenylalanine level in blood and during pregnancy they should carry out regular check ups for phenylalanine levels in blood.

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