Phenylketonuria Essay

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  • Essay about Phenylketonuria

    852 Words  | 4 Pages

    Phenylketonuria Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, tyrosine, it can create other enzyme routes that build up in the blood stream and body tissue. This can be extremely harmful to the body and its development

  • Phenylketonuria In Babies Essay

    1809 Words  | 8 Pages

    Phenylketonuria (PKU) was the leading cause on infant death after birth before the 1960’s. This is a disorder in which a person cannot properly metabolize an amino acid know as phenylalanine that is found in our food. If detected early at birth we can prevent mental defects to the baby (Alan Fogel). With just a simple test done at the hospital PKU can be detected and managed so that they can grow into healthy adulthood. With the proper dietary plan someone with this autosomal-recessive disorder can

  • Phenylketonuria Research Papers

    731 Words  | 3 Pages

    Phenylketonuria is an inherited disorder which means it is passed down from the parent’s genome. It is an inborn disorder, meaning it is developed and can be diagnosed at birth. Phenylketonuria is found more often in the Native American and Northern European ethnic groups backgrounds. It is less commonly observed in people from Asian, African, or Hispanic groups. PKU can cause a harmful increase in levels of an amino acid known as phenylalanine in the blood, by interfering with the body’s ability

  • Genetic Disorders: Phenylketonuria (PKU)

    1546 Words  | 7 Pages

    Introduction: 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

  • The Effects Of Phenylketonuria On Infants Babies

    1218 Words  | 5 Pages

    Introduction/Problem Statement 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

  • The Details Of Phenylketonuria And Huntington 's Disease

    1562 Words  | 7 Pages

    This essay will introduce the details of phenylketonuria and Huntington’s disease. Using these facts, the difference in screening policy between the diseases will be morally justified. The arguments will relate to the desire for informed autonomy, the differing prognoses for the diseases, and the avoidance of moral conflict. Then, using a test case, arguments will be made for circumstances in which one would be morally obligated under the principles of beneficence and justice to be tested for Huntington’s

  • Phenylketonuria

    358 Words  | 2 Pages

    PHENYLKETONURIA. Have you ever heard of the genetic disorder called phenylketonuria? Phenylketonuria (PKU) if not treated, makes your pee stink (mayoclinc.org). A scientist found that there was a bunch of simpletons caused by parents’ gens. He is a respected Indian scientist in Norway (pkunews.org). PKU is found and diagnosed by a doctor getting blood from the baby and put I'm ting it threw a test. Origin of Discovery working from his own improvised laboratory in the attic of the

  • Phenylketonuria Theory

    280 Words  | 2 Pages

    Phenylketonuria was first heavily researched by Norwegian physician Asbjørn Følling in 1934. The mother of two cognitively disabled children asked Følling to begin conducting tests to find out if there was any connection between the children’s abnormal smelling urine and their intellectual impairments. In order to continue his research, Følling gathered over four-hundred urine samples from nearby medical centers. All of these samples came from individuals also exhibiting intellectual impairments

  • Phenylketonuria Essay

    1026 Words  | 5 Pages

    Phenylketonuria is an autosomal recessive error that leads to a mutation of the enzyme phenylalanine hydroxylase (PAH). This disease, more commonly known as PKU, is characterized by a deficiency in the enzyme needed to process the amino acid called phenylalanine (Mayo Clinic Staff, 2014). The mutated PAH is crucial in the degradation of amino acids. The amino acids we intake are from food, which makes PKU a metabolic disorder (Okan, 2011). The body’s inability to break down phenylalanine leads

  • Essay about Sandhoff’s Disease> Tay Sachs

    604 Words  | 3 Pages

    “The carrier rate for Tay-Sachs in the general population is 1/600” (OMIM). Sandhoff Disease is a rare genetic disorder, and it is a severe form of Tay-Sachs that progressively destroys cells in the brain and spinal cord. Since its discovery and analysis of inheritance, there have been advancements of its diagnosis, treatment, research, and its support resources for affected families. Those affected individuals lose motor skills and function of other body parts. As the disease progresses they experience

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