Community Discussion Forum Parent support Three Years to Detect PKU Reply To: Three Years to Detect PKU

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Basically a person with PKU has either a missing or deficient enyzme in the liver called Phenylalanine Hydroxalase (or PAH). PAH is known for breaking down protein, more specifically an amino acid in protein called Phenylalanine (or Phe). Since people with PKU either don’t have PAH at all or they do have it but it doesn’t work very well their bodies can’t break down protein like most people do. So after eatting too much protein it begins to accumulate in the blood. If this happens then the Phe can block the blood and oxygen flow to the brain. That can cause things like tremors/shakes, headaches, lack of concentration, lack of energy, lack of balance, irritablity, slow development, lower IQ and eventually siezures and possible mental retardation. Because of all these problems due to no treatment is is very important that your nephew is taken care of as soon as possible to prevent any more damage!
There is no “cure” for PKU at any age. Although there is a treatment. The treatment for PKU is a life long low protein diet. This diet would exclude meat, dairy, most grains, beans, nuts etc (basically anything high in protein thus the name Low protein diet). He would have to drink a special metabolic formula to get nutrients and amino acids that he won’t get because he isn’t eatting high protein foods. He would also need regular blood tests done to check how much phenylalanine is in his blood and to monitor his tyorosine level. The formula also gives tyrosine and that is another amino acid that is essential to grow and develope.
This is a very short explaination of what PKU is, if you have any questions at all please do not hesistate to ask. I’m sure that everybody here, myself included, will try to help you as much as we can. I am not sure where you would go to get help with your nephew, but I would first think about calling as many hospitals/doctor clinics etc and see if any of them can tell you where you would beable to get in touch with a medical geneticist, dietitian, nutritionist, genetic counselor or somebody else who has experience with PKU. nGood luck with this!
Breanna 16 with Classical PKU

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