Phenylketonuria Essay

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. 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

from fertilization until birth (Prenatal Development). Most cases of unhealthy development can be avoided, however there are some genetic and environmental factors that cannot. Some genetic factors that affect the development of the fetus are Phenylketonuria, Sickle-cell Anemia, Tay-Sachs Disease, and Down Syndrome (Feldman 402). Some environmental teratogens that affect the development of the fetus are disease, toxic substances, the mothers age and well-being (Feldman 403). Teratogens are environmental

Phenylketonuria is a lifelong disorder it is an inborn error and inherited metabolic disorder caused by a mutation in PAH gene. Accumulation of PHE in the blood effect on myelination and neurotransmitters production. Normal physical growth, preventing neurological deterioration and maintenance of health are the goals for lifelong treatment. To achieving optimal cognitive outcome blood, PHE tries to stay between (120-360) µmol\L. Patients with PKU need to stay on treatment, and that will vary from

allometry (part of an organism in relation to the whole organism) and pleiotropy (idea where one gene controls multiple phenotypic traits). An example of pleiotropy in nature is the disease Phenylketonuria (PKU); a mutated gene that affects multiple characteristics. In a paper published in 1987 mentions, “Phenylketonuria (PKU) is an autosomal recessive human genetic disorder” indicating that pleiotropy is an important phenomenon in nature (Dilella 1987). An example of adaptation and selection occuring

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

numerous diseases. For example, Dr. Collins speaks about the positive experiences individuals have had in regards to the treatment of their genetically inherited conditions. One case he mentions is a girl named Tracey Beck. Tracey suffered from phenylketonuria (PKU), a condition where the body cannot metabolize the amino acid phenylalanine that is found in protein. High levels of phenylalanine build up in the brain causing developmental delays. After exhibiting signs of sleepless by her mother, Tracey

Introduction Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive metabolic disorder primarily caused by a deficiency of the hepatic phenylalanine hydroxylase (PAH, EC 1.14.16.1) enzyme responsible for converting phenylalanine (Phe) to tyrosine in the presence of cofactor tetrahydrobiopterin (BH4) and molecular oxygen. (Viecelli et al 2014) Definitive characteristic of the disease is the impaired postnatal cognitive development resulting from a neurotoxic effect of phenylalanine accumulation

Cystic fibrosis, PKU and the Digestive system 1. What are the symptoms of cystic fibrosis and PKU with respect to the digestive system? Symptoms for cystic fibrosis include diarrhea that does not go away, foul-smelling stools, greasy stools, frequent urinating, frequent episodes of Pneumonia, persistent cough, skin tastes like salt, poor growth, chronic sinus infection. When phenylalanine builds up it affects brain functions and the central nervous system. Some symptoms include: skin problems

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