What the heck is Phenylketonuria Maxwell Hunt Phenylketonuria

What the heck is Phenylketonuria? Maxwell Hunt

Phenylketonuria (PKU) Phenylketonuria: A rare metabolic disorder caused by a deficiency in the production of the liver.

Cause Autosomal recessive Not a sex-linked disorder Caused by nondisjunction

Facts about this disease Less then 20000 cases per year in the US Equal distribution between men and women The ethnicity varies in terms of pku It’s important to treat infants with Phenylketonuria

Symptoms Developmental: delayed development, failure to thrive, learning disability, short stature, or slow growth Cognitive: intellectual disability or slowness in activity and thought Skin: loss of color or rashes Also common: body odor, hyperactivity, seizures, or urine odor

Testing/ Screening After a baby is born, it is necessary for the new born to have it’s blood tested. The blood is usually taken from the heel or the ben in their arm.

Treatment A strict diet and limitations on protein are recommended with those with Phenylketonuria The disease is not life threatening, however it can cause brain damage

Interesting Facts 74 infants every day are diagnosed with PKU. There is a 1 in 4 chance of having a PKU baby when both parents are carriers.

Bibliography https: //www. google. com/? gws_rd=ssl#q=pku%20 biology%20 definition http: //healthresearchfunding. org/14 -amazing-phenylketonuria-statistics/ https: //www. nlm. nih. gov/medlineplus/ency/article/001166. htm