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Phenylketonuria

What is Phenylketonuria?

Phenylketonuria is an autosomal recessive genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase.

 

Phenylketonuria is an autosomal recessive genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase.
Acknowledgement of Phenylketonuria has not been added yet.
4.0http://www.orpha.net
Synonyms for Phenylketonuria has not been added yet.
Cause of Phenylketonuria has not been added yet.
Symptoms for Phenylketonuria has not been added yet.
Diagnosis of Phenylketonuria has not been added yet.
Diagnostic tests of Phenylketonuria has not been added yet
Treatments of Phenylketonuria has not been added yet.
If left untreated, this condition can cause problems with brain development, leading to progressive mental retardation, brain damage, and seizures.
Tips or Suggestions of Phenylketonuria has not been added yet.
References of Phenylketonuria has not been added yet.
Scholarship awarded to young woman with PKU Created by RareshareTeam
Last updated 29 Jul 2018, 03:33 PM

Posted by RareshareTeam
29 Jul 2018, 03:33 PM

Olivia Cummings, a young woman living with PKU, has been named the first ever recipient of BioMarin Pharmaceutical's new RARE Scholars scholarship!  Read more here.

Have you heard of any other scholarship opportunities for students with PKU or other rare diseases?

Research On PKU Created by jloven01
Last updated 24 Jan 2012, 08:55 PM

Posted by jloven01
24 Jan 2012, 08:55 PM

I am collecting anecdotal information from people with personal experience with PKU for my Senior Honors Thesis in American Studies at Tufts University. My thesis An Examination of Eugenics in Genetic Medicine: A Case Study of PKU examines PKU patients’ access and participation in genetic medicine. I wish to include personal stories to give my thesis a more personal, human perspective beyond my institutional analysis of genetic medicine. Would anyone in this community at RareShare be willing to participate in this study and share your personal experience? Interviews will take approximately one hour and be conducted by phone. They will be conducted in private and information will remain confidential. If you are interested learning further information about participating please contact me by email at Jamie.Love-Nichols@tufts.edu. Thank you!

PKU in preteens Created by NuttySquirrel
Last updated 23 Feb 2009, 02:56 AM

Posted by NuttySquirrel
23 Feb 2009, 02:56 AM

Thanks--I appreciate the advice! The vegan excuse may come in handy.

Posted by Crazy
19 Feb 2009, 12:55 AM

It can be hard to have a easy fix. A lot of it depends on what her diet is like some people have milder cases of PKU and therefore can eat more over all. However one thing that might work is to try to eat really low protein things so that she could eat more. Also being that she preteen and growing she may need her formula to change. As far as cheating it is hard not to, the temptation is really tough. First I guess acknowledge how hard it can be and be positive about what she does right. It is also an important time to let her feel more in charge of her own diet. Also important to make it clear to her that cheating hurts only her and no one else. It is also important to help and explore ways to help her be "normal " around other kids.As happy as she should be with her self, it is a time where peer pressure can be overwhelming and having a plan for what to do before being in those situations is helpful. Just F.Y.I when I don't feel like sharing my disease with people I just say I am a vegan who is allergic to a lot of foods.

Posted by NuttySquirrel
18 Feb 2009, 03:29 AM

Hi, I'm actually a member of a different community on this website, but I have a close relative with PKU. She's a preteen, and is having some trouble with being hungry and cheating with the diet. My sense from what I've read about PKU is that hunger is pretty common given what the diet is like. Do you have any tips for dealing with the hunger and the temptation to eat verboten foods? Thanks so much!

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Scholarship awarded to young woman with PKU

Created by RareshareTeam | Last updated 29 Jul 2018, 03:33 PM

Research On PKU

Created by jloven01 | Last updated 24 Jan 2012, 08:55 PM

PKU in preteens

Created by NuttySquirrel | Last updated 23 Feb 2009, 02:56 AM


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