Pkkia Genetic Disorder

According to research, PKU is “an autosomal recessive genetic disorder characterized by mental retardation due to a deficiency in phenylalanine hydroxylase, an enzyme necessary to metabolize the essential amino acid phenylalanine to tyrosine. Without phenylalanine hydroxylase, phenylalanine is converted to neurotoxic phenyl pyruvic acid” (Gonzalez, 2009). For those who have PKU, the phenyl pyruvic acid would become quite toxic and lead to damage within the brain causing mental retardation. PKU was first discovered in 1938 by a man named Asbjorn Fölling, and throughout the early 1960s phenyl pyruvic acid was found in urine using a reaction with ferric chloride. However, it was in 1958, that Dr. Guthrie transferred to the Buffalo Children’s Hospital and was able to develop a new approach to measure and monitor

mutation is phenylalanine 508 known as delta F508. Delta F508 is a deletion of 3 nucleotides

Phenylketonuria, or PKU, is an autosomal recessive, heritable disease that decreases levels of the enzyme phenylalanine hydroxylase, which is responsible for the metabolism of the amino acid phenylalanine, resulting in an unhealthy buildup that can lead to brain damage, seizures, and intellectual disability. While not curable, PKU, if detected early on, can be treated to allow sufferers to lead full and healthy lives. The symptoms of PKU appear almost immediately after birth, requiring parents and hospitals to make the necessary preparations, including feeding infants with special formula. Lack of such care can result in

Carol’s line of questioning indicates that she is willing to learn and ready for the nurse to further educate her concerning PKU screening. Carol should be made aware that infants born with PKU are unable to metabolize the amino acid phenylalanine, “...a protein found in milk, dairy products,

With so many advances in medical technology, ethical dilemmas often accompany the advances. Genetic testing continue to be one of the most heated ethical debate in today’s health care. In 1963, newborns began to be tested for phenylketonuria (PKU), an amino acid buildup in the blood that causes mental retardation. This is the earliest genetic testing documented in the health care of the United States. Today, more than 2,500 available genetic testing are available to the public where the lowest cost reported is a DNA home kit for one hundred dollars. In 2013, the famous actress, Angelina Jolie, undergone a preventive double mastectomy after the BRCA genetic tests that revealed she was at a high

Newborn screenings are done to identify infants with PKU. Each state in the United States differs with their screening process, but most of the screenings consists of blood tests. A few drops of blood are collected from the baby’s heel 24 hours after the baby is born. The blood sample is sent to the laboratory to test for metabolic disorders such as PKU. If there is an indication of PKU further tests are conducted like urine tests and more blood tests.

In the United States, Phenylketonuria (PKU) affects about 1 in 10,000 to 15,000 newborn babies, making it a very uncommon genetic disorder (U.S National Library of Medicine, 2016). Phenylketonuria stems from an abundant buildup of an essential amino acid called phenylalanine that can become very dangerous when it reaches excessive levels (U.S.National Library of Medicine, 2016). The excessive buildup of phenylalanine is caused by an alteration in the gene which codes for the enzyme known as phenylalanine hydroxylase (PAH), which functions in breaking down the aforementioned essential amino acid phenylalanine (U.S National Library of Medicine, 2016). This genetic mutation is caused by an autosomal, recessive genetic mutation in chromosome 12 (Genetic Science Learning Center, 2016).

Phenylketonuria is an autosomal recessive disorder caused by deficiency of the enzyme phenylalanine hydroxylase, which normally converts phenylalanine to tyrosine. Serum phenylalanine concentrations

Prader-Willi Syndrome is a genetic disorder that is passed down maternally. The paternal genes of the chromosome 15 in the region of q11-q13 are deleted or unexpressed. The result of these deletions carries distinct phenotypes that differentiate PWS from other disorders (Böhm, 2014). Some characteristics are a short stature, and specific facial features that tend to make the affected persons resemble one other such as seen in Down syndrome. This typically includes “almond-shaped eyes, a thin upper lip, a downturned mouth, a narrow bridge of the nose, narrow forehead, and a disproportionately long, narrow head (dolichocephaly). Distinctive facial features can be noticeable shortly after birth or may develop slowly over time,” (Cassidy,

Approximately 1 in 10,000 caucasian babies are born with PKU (Baulny, 2007). In order for a person to inherit phenylketonuria, the mother and father both must have and pass down the defective gene. The parents of someone afflicted by this disease may have the gene but not have PKU. This parent would

One of the world’s most rare inherited genetic disorders, Phenylketonuria is an autosomal recessive condition that affects 1 out of every 15,000 people in the U.S. It’s well known for causing brain damage and mental disabilities, and central nervous system damage amongst other irreversible symptoms. Although it can now be tested for and is treatable today, it limits what foods the body can eat without serious harm. Phenylketonuria is a metabolic disorder involved with chemical imbalances of proteins and paves the way for harsh symptoms, developmental disabilities, and an incredibly strict diet.

In the United States alone, a genetic disorder known as Phenylketonuria (PKU) occurs in every 1 in 10,000 newborns, and has the capacity to cause severe mental deceleration. The causative agent of PKU is a single mutation in the PAH gene, which triggers the build-up of the amino acid phenylalanine. Thanks to discoveries made over the last century, newborns are screened for the disorder at birth, and thus treatment can start promptly if needed. As of now, there is no cure for PKU, only a restrictive diet to reduce symptoms.

What is PKU? Well PKU stands for "phenylketonuria". It's a type of amino acid disorder. People with this disorder have trouble breaking down an amino acid named phenylalanine from the food they consume. This type of disorder is a group of rare inherited conditions. They are caused by enzymes that do not function correctly. PKU is always tested right after birth in the United States. It is important to find this disease early as it can cause severe brain damage. It is usually done in the first few days after birth and as early as 24 hours after birth. It may be repeated within the first week or two after birth. If tested positive, the damage caused by PKU may begin weeks after the baby has consumed formula or breast milk. Babies with this disease

Screening for PKU is now done in every state for all newborn babies. The test, called the heel stick test, is done at about three days old, to get early detection. Early detection is the key when treating PKU. If at an early age the baby’s diet is changed to avoid phenylalanine, a baby who was once destined to become severely mental retarded, now can live their lives fully without any symptoms of the disease. A baby who has PKU must immediately be kept away from foods containing protein, because protein contains high levels of

PAH is an enzyme needed to digest phenylalanine (National Human Genome Research Institute, n.d.) and synthesize proteins in humans (Williams, Mamotte, & Burnett, 2008) and without this enzyme serious problems may occur. Due to the deficiency of PAH, certain physical characteristics and actions are often seen with those who suffer from phenylketonuria. “Classical PKU” symptoms include paleness of the hair, skin and retina; underdeveloped tooth enamel; limited cognitive and functional abilities; perturbation; hostility and self-injury. (Mazur et al.,