Phenylketonuria (Pku)

Also known as; Deficiency disease, Phenylalanine Hydroxyase, Folling Disease, PAH Deficiency, PKU

The disease was discovered by Asbjorn Folling in 1934 by noticing hyperphenylalaninemia was associated with intellectual disability.

The disorder is a Niemann- Pick Disease Type C. Inherited by the autosomal recessive gene.

Symptoms vary from mild to severe: Intellectual disability, Delayed development, Behavioral, emotional, and social problems, Poor bone strength, Skin rashes, Fair skin and blue eyes, Abnormally small head.

PKU eliminates or dramatically reduces the body's ability to break down phenylalanine or (PHE)

Diagnosed by a blood test. All US states require PKU testing for newborn babies.

The life expectancy is the same as a person who doesn't have the disease, the disorder impacts the person by the high PHE levels that build up in the body which could lead to brain injury or life long epilepsy.

Current treatments of this disorder is to not eat foods with a lot of phenylalanine because too much of it will cause even more damage than already caused.

National PKU Alliance. This facility has been researching PKU for 10 years trying to find ways to better understand and treat the disorder.

In the United States, one in every 10,000 to 15,000 babies is affected by phenylketonuria (PKU)

Caroline was 3 days old when her mother took her out to target, she received a phone call from the pediatrician thinking it would be an appointment reminder, but instead it was an urgent order to take her baby to the hospital because her blood test showed that she had PKU, Caroline was put on PKU formula and after 5 months she was allowed to eat solids, but her diet was very strict and she had many limitations, she lives her childhood taking her daily intake of PKU formula and limited solids low in PHE.

http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275

https://ghr.nlm.nih.gov/condition/phenylketonuria

https://medlineplus.gov/ency/article/001166.htm

http://www.babysfirsttest.org/newborn-screening/conditions/classic-phenylketonuria-pku

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