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Everyone is born differently, and not everyone has the same opportunity as others. People around the world are born with disabilities and different disorders that can lead to serious conditions. When a baby is born it is mandatory in the U.S. that your health provider takes a newborn screening detecting for a disease, what if it was missed by the examination? Would something bad happen? This could cause mental disorders or slow development to the kid. That is why detecting this disease as a newborn is so important. This rare genetic disorder is called phenylketonuria which can cause damage in the body if not treated. This happens to babies when their parents pass down a total of two bad copies causing their body to not be able to metabolize the protein phenylalanine. This disorder would need a lifelong treatment to live normal lives just like everyone else. If the newborn screening failed to detect the disease phenylketonuria, then later in life if the child shows symptoms of slow development then a new screening would be taken. A true story of a young girl born with this rare genetic disease shares her story but Katy was not given that opportunity”. But what really is phenylketonuria? How are you treated? What if there was never a newborn screening?And what happens to the body? What if newborn screening was not required depending on where you live? Is what should be asked? Katy had to struggle but her parents.

Description / causes of Disease

Phenylketonuria also called PKU is an inherited disorder in which the amino acid phenylalanine cannot be broken down by the body. The enzyme, phenylalanine hydroxylase (PAH) may build up in the bloodstream and other tissues and as an effect, it can cause brain damage. If PKU is not treated early, it can increase the levels of phenylalanine causing severe brain damage and intellectual disabilities (Genetics Home Reference Feb.11, 2020). Phenylalanine is used by your body to generate proteins and typically comes from all various types of foods. Pregnant women with PKU are more likely to have more elevated levels of phenylalanine and can be a risk to their upcoming newborn babies causing them to have mental retardation, developmental delay, heart issues and more. PKU can sometimes be missed after birth because the symptoms are rarely identified. To detect PKU in babies, they would need to undergo a newborn screening which was created in the 1960s (National Human Genome Research Institute, Aug.21, 2014).


The symptoms for PKU vary from moderate also called mild to severe also called classic PKU. The first few months infants may not be detected with symptoms of PKU. Without treatment, it can lead to mental retardation, seizures, developmental delay, and autism. The infant may have eczema of the skin, lighter skin, and hair than their family members. A Specific diet that contains low protein in foods or no phenylalanine will need to be followed (National Human Genome Research Institute, Aug.21, 2014).


The United States varies from one in 10,000 to 15,000 babies diagnosed with phenylketonuria and it is rare. It also depends on ethnic groups and geographic regions worldwide. Phenylketonuria can happen to both genders, boys and girls. This disease is identified since the day you were born by receiving a newborn screening. A specific diet will need to be followed if diagnosed with PKU. Women that have phenylketonuria need to maintain a PKU diet before getting pregnant (Mayo Clinic, n.d.).


Phenylketonuria is an autosomal recessive meaning that the baby is born with two imperfect copies causing him or her to have the disease (National Library Of Medicine, Feb.11, 2020). Each parent is a carrier possessing one bad copy of the disease. The parents pass down a total of two mutated genes to the baby having phenylketonuria. The parents may never show symptoms of PKU because they carry one bad copy and one good copy also called heterozygous. Toxic levels of the enzyme phenylalanine hydroxylase (PAH) can build up in the bloodstream and the body causing brain damage. This would need to be treated immediately with a diet treatment recommended by a healthcare provider 2(National Human Genome Research Institute, Aug.21, 2014).

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Phenylketonuria is diagnosed through newborn screening (National Human Genome Research Institute, Aug.21, 2014). First, a doctor will need to clean the baby’s heel with alcohol and poke the heel with a needle to collect a few drops of blood to run tests. To be accurate or have no phenylketonuria complications the newborn screening is done twenty-four to seventy-four hours after birth. The baby is able to drink formula that does not contain the protein phenylalanine. The baby would need to follow a lifetime diet that contains low-protein (Medicine Plus, Feb.4, 2014).


If the baby is diagnosed with PKU a diet treatment needs to be followed. It would be important to limit the amount of protein you intake that contains phenylalanine. A PKU diet would be followed by low-protein foods and taking special vitamins and minerals. It is important for pregnant women to follow the PKU diet to maintain average levels of phenylalanine (National Health Genome Research Institute, Aug.21, 2014). When following this diet, it is important to intake fruits, cereals, or items with low or no phenylalanine and avoid high-protein foods like fish, eggs and dairy (Medicine Plus, Feb.4, 2014).

Discovery/Current Research

PKU was discovered in 1934 by Dr. Ivar Asbjorn. The story was about a mother who gave birth to two kids who later showed symptoms of mental retardation and reached out for help. Doctors weren’t familiar with the disease so the mother was neglected several times. Until she found someone who was willing to help. Dr. Asbjorn ran a urine test and as a result it showed no protein or glucose. Since then in 1934 it was discovered that an amino acid was not produced by the body which can cause mental retardation. Or in other words “On excretion of phenylpyruvic acid in the urine as an anomaly in metabolism in connection with mental retardation”, said by Dr. Asbjorn (Messner, May 16, 2012). “National PKU Alliance” is an organization that is located around the united states, doing current research and advocating for patients with phenylketonuria. Their current research involves finding a cure for PKU and working together to improve the lives of current patients (National PKU Alliance, n.d.).

Support and Promotion

An organization that is trying to advocate and stand up for PKU in the united states is “National PKU Alliance” or NPKUA. “The NPKUA mission is to improve the lives of individuals with PKU and pursue a cure”. This organization is a vital voice for people with phenylketonuria around the community. Their main goal is to research, support, educate, and advocate. This organization was formed in 2008 with the help of parents, grandparents, and individuals across the country. The nearest clinic in or place to help treat someone with PKU is located in “KU wichita pediatrics” (National PKU Alliance, n.d.). People around the the country are supporters of PKU but Brianna Bliss is a great role model advocating for phenylketonuria. She is a 17 years old from Norman OK, named as Oklahoma’s 2006 “Champion child” for the child’s medical network. Once she had a meeting with president Bush and took part in a national telethon in Orlando, Florida. She has visited many groups, businesses, and also PKU support groups of “what it is like to grow up with PKU” (National PKU News, n.d.).


As it was mentioned in the beginning phenylketonuria is a genetic disease passed down from parents to the kid. This disorder has to be treated with a lifelong diet, by only eating low-protein or not having the protein phenylalanine in the food because the ability of the body of not being able to break down that protein properly. It is diagnosed with a newborn screening but not everyone has the same opportunities as others, as it was said at the beginning. The story of a seven year old was shared to help advocate for those who are born different. Katy was born without undergoing a newborn screening, which impacted her life growing up. Katy was born in Mexico and at the time it was not required to have newborn screening. Months later, Katy’s parents noticed that she was “experiencing problems” and searched for answers. Thirteen months later Katy was finally diagnosed with PKU but not getting treatment this long affected the way she spoke. Later on she showed symptoms of developmental delay and is unable to share her story, that is why her parents speak up for her. It was important for her parents to share her story, and “promote newborn screening across the world” (Global Genes, Jan.9, 2015).Today newborn screening is required everywhere around the world which can cause major differences and help a baby later in life. The most important thing about phenylketonuria would be to detect it first than treat it to live a healthy life. Not everyone has the same chances as others that’s why it is important to speak up and help others for the world to be a better place for you and them.

#heathcare #medical #medicalcare #pharmaceuticals #healthcareprofessional #nurses #healthprofessionals

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