Phenylketonuria (PKU) by Kelsey Williams

What is it

kelseyb007 — 2015-10-15 15:35:48 UTC

enzyme deficiency that makes the individual unable to digest certain amino acids. There is a high level of phenylalanine in their blood.

Occurs in 1 in 10,000 to 1 in 15,000 births in the United States.

What Does It Do

kelseyb007 — 2015-10-15 15:39:17 UTC

The individual is unable to process proteins. The amino acid used to make this protein can cause intellectual disabilities and behavioral problems after birth. During pregnancy, the baby can develop heart problems, a small head, and developmental delays.

If the form of PKU is less severe, they will only develop mild mental retardation. If it is only slight, called hyperphenylalaninemia, nothing may be wrong.

How Does It Happen

kelseyb007 — 2015-10-15 15:50:18 UTC

PKU is inherited through the parents. The baby often appears normal after birth for the first few months. However, newborn screening has been used to test for PKU. Rarely this is missed in infants but it is still important to keep an eye on the baby as they develop.

kelseyb007 — 2015-10-15 15:52:12 UTC

"Phenylketonuria." Phenylketonuria. University of Utah, n.d. Web. 15 Oct. 2015. <http://learn.genetics.utah.edu/content/disorders/singlegene/pku/>.

"Learning About Phenylketonuria." Learning About Phenylketonuria. National Human Genome Research Institute, 21 Aug. 2014. Web. 15 Oct. 2015. <https://www.genome.gov/25020037>.

Decker, Celia Anita. "Special Medical Concerns of Pregnancy." Child Development: Early Stages Through Age 12. Eighth ed. Tinley Park: Goodheart-Willcox, 2016. Print.

My PKU Life (4 minute version)

kelseyb007 — 2015-10-16 15:10:12 UTC

kelseyb007 — 2015-10-16 15:18:17 UTC

What To Do

kelseyb007 — 2015-10-16 15:25:21 UTC

People with PKU are placed on a special diet with a limited amount of protein (containing phenylalanine), taking vitamins and minerals, special low-protein foods, and special medical foods. They need to remain on this diet for their lifetime. Especially when they are pregnant as high levels of phenylalanine in the blood can affect the fetus.

People with hyperphenylalaninemia, may not need a diet because the risk is not there.