Sir Archibald Edward Garrod KCMG FRS[1] (25 November 1857 – 28 March 1936) was an English physician who pioneered the field of inborn errors of metabolism. He also discovered alkaptonuria, understanding its inheritance.
The incidence of PKU or HPA is highest amongst Caucasians, occurring in approximately 1 in 10,000 births. PKU can be detected in newborn screening as performed in most Western countries, and early dietary treatment consisting of a low protein diet with Phe restriction can prevent the development of metabolic and pathological sequelae, including intellectual impairment.
In order to avoid birth defects if a women is pregnant and has PKU is following a low-phenylalanin diet before and while pregnant. Also, talking to a genetics specialist may help you gain information on where the PKU came from by looking at the family history. They may also help you determine the risk of having a child with PKU.
The main treatment for an individual with PKU includes a limited protein diet for their lifetime. As stated earlier, proteins contain phenylalanine. A protein substitute formula may be recommended as an additional supplement in order to make sure an individual is receiving the required nutrients to maintain growth and development. Individuals with PKU may also benefit from visiting a registered dietitian in order to learn more about a PKU diet entails.
PKU medication has been approved by the FDA to treat PKU. This drug is called sapropterin (Kuvan) and is used in combination with a PKU diet. It works by increasing an individual’s tolerance to phenylalanine, however, it does not work for everyone.
The US requires all newborns be screened for PKU. According to mayo, “If you have PKU or a family history of it, your doctor may recommend screening tests before pregnancy or birth. It’s possible to identify PKU carriers through a blood test” (mayo).
Testing your baby after birth
Babies are tested for PKU a day or two after birth. A baby cannot be tested at least until it is 24 hours old because the baby is required to ingested some protein in their diet. The tester will collect a blood specimen from the infants heel or the bend in the infant’s extremity. Individuals that don’t deliver in the hospital are recommended to contact a physician in order to have the infant screened. If the baby tests positive for PKU, additional tests will be need to confirm. Also, the parents and baby may undergo genetic testing to identify gene mutations.
Mayo Clinic. (2017, January 25). Glaucoma: Phenylketonuria (PKU). Retrieved from http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275
-Having parents that are carriers of the defective PKU gene
-Certain ethnic decent…. Less common in African-Americans compared to other ethnic groups
-Individuals born to mothers with PKU.
High protein foods!
Food such as potatoes, grains, or other vegetables that contain protein should be limited.
Individuals must avoid beverages and foods that contain aspartame. Aspartame is found in artificial sweetners and can be dangerous to an individual with PKU since I release phenylalanine when digested. It can also be found medications, beverage, supplements, and vitamins.
Mayo Clinic. (2017, January 25). Glaucoma: Phenylketonuria (PKU). Retrieved from http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275
A mutation in the PAH gene causes phenylketonuria. This defective gene causes a lack of or deficiency of the enzyme needed to process phenylalanine. Since phenylalanine is an essential amino acid which requires you to get it from food sources. Amino acids are the building blocks of proteins and play a crucial role in metabolism. If an individual is unable to break down phenylalanine found in proteins, they are at risk of health complications. Individuals with PKU should avoid high protein foods.
Newborns
-As stated earlier, in the US, newborns are screened for PKU shortly after birth. The doctor will recommend dietary treatments right away in order to avoid long-term health complications
-Women during child bearing years
-Since women with PKU risk harming a developing fetus, it is important to maintain a PKU diet before and during pregnancy.
Adults
-It is important that adults with PKU continue to follow a protein restricted diet throughout their life in order to maintain health. According to mayo, “Older adults with PKU who may have stopped the PKU diet in their teens may benefit from a visit with their doctors. Returning to the diet may improve mental functioning and behavior and slow damage to the central nervous system in adults with high phenylalanine levels” (mayo).
-Adults with PKU continue to receive care across their life span.
Mayo Clinic. (2017, January 25). Glaucoma: Phenylketonuria (PKU). Retrieved from http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275
PKU 