Main Ideas:
- PKU is a genetic disorder that causes a build up of phenylaline, an amino acid, in the body. Enzymes that normally break down this amino acid are defective and can't do their job properly.
- Without this enzyme, the build up can develop dangerously when the affected person eats food that has proteins or artificial sweeteners.
- Babies are required to be screened for the disease shortly after being born.
- The first symptoms could be musty odor in breathe, skin, or urine. Seizures, rashes, delayed development, and other brain issues may also occur.
- The gene can be inherited genetically if both parents are carriers of the gene.
- Treatment includes a lifetime diet with limited amounts of protein, and foods like milk, eggs, cheese, nuts, and meats have to be avoided or taken in very small amounts. Amino acid therapy is also a treatment option, taken in a powder or tablet form.
- If left untreated, PKU can lead to irreversible brain damage.
It was surprising to learn that this disorder can have such a major impact on the affected person's life. As someone with this disorder you'd have to constantly watch what you eat and make sure you don't eat anything you aren't supposed to. One thing that I learned is that all babies are screened for it after being born, meaning all of us were probably screened for it when we were little. This was a very interesting topic to learn about, and I thought it was very enlightening to some of the health problems that people should be aware of, and it was also surprising that someone could be a carrier of the gene and not have the disease, but could pass it on to their children.
Citations:
Mayo Clinic Staff. “Phenylketonuria (PKU).” Mayo Clinic, Mayo Foundation for Medical Education and Research (MFMER), www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302.
“Sickle Cell Trait.” Dshs.texas.gov, Texas Department of State Health Services, 7 Feb. 2019, dshs.texas.gov/newborn/sctrait.shtm .