Symptoms



Some symptoms of PKU in newborns and older children are:
  • Mental retardation
  • Behavioral or social problems
  • Seizures, tremors or jerking movements in the arms and legs
  • Hyperactivity
  • Stunted growth
  • Skin rashes (Eczema)
  • Small head size (Microcephaly)
  • A musty odor in the child's breath, skin or urine, caused by too much phenylalanine in the body
  • Fair skin and blue eyes, because phenylalanine cannot transform into melanin — the pigment responsible for hair and skin tone

5 comments:

  1. Wei Lu12 January 2014 at 19:59

    Anyonghaseyo Afiqah! :) Great blog! I certainly learnt a lot about Phenylketonuria!

    1) Are most of the symptoms of PKU mainly a result of the build-up of phenylacetate/phenylacetyl glutamine etc, or are they from the lack of catecholamines/melanin/other metabolites from the main Phe metabolism pathway?

    2) If the symptoms are from a lack of catecholamine/melanin etc, is it possible to consume a diet high in tyrosine or tyrosine supplements to make up for this deficiency? Since Phe will have to converted to Tyr first.

    Kamsahamnida ~



    ReplyDelete
    Replies
    1. Danesha13 January 2014 at 20:21

      Hi Wei Lu!! :)

      1) Most symptoms of PKU are actually due to the result of the high levels of Phe in the body and not due to the lack of melanin, catecholamines and other metabolites.


      2) Though the symptoms as mentioned above are not due to the lack of catecholamine, melanin and other metabolites, it is still possible to take Tyr supplement tablets but the it is recommended that patients with PKU take the amino acid formula in order to get all their required daily amino acids.

      Delete
  2. Wei Lu12 January 2014 at 20:00

    Hello Danesha!!! ^^

    ReplyDelete
  3. Unknown21 January 2014 at 12:34

    Hello!
    I am curious about whether the symptoms in adults and children are the same?
    Will the accumulation of phenylalanine in the mother's blood have any effect on the pregnant mother?
    Thank you!
    - JJ

    ReplyDelete
    Replies
    1. Thirteenave3 February 2014 at 17:39

      Hi!
      People with PKU are born with that condition. If it is left untreated, then symptoms of PKU will show and the only way to reverse this symptom is by reducing the amount of phenylalanine in the body. Therefore, the symptoms will be more severe in adults since PKU is left untreated.

      Accumulation of phenylalanine in the mother's blood may cause miscarriage. In addition, if the baby does not have PKU, he/she may have a significant risk of intellectual disability due to exposure to high levels of phenylalanine before birth. Therefore, this baby has similar symptoms to babies who are born with PKU.

      Hope I've answered your queries. :D

      Delete

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