Phenylketonuria Research Paper

Words: 671

Pages: 3

Open Document

Phenylketonuria, or PKU, is a genetic disorder in which the level of an amino acid called phenylalanine exists at an exorbitant level in the blood. This is caused by the body’s inability to properly metabolize phenylalanine, which is caused by a defect in the gene that creates the enzyme responsible for breaking down phenylalanine, known as a PAH gene.1 This condition was discovered by Dr. Ivar Asbjørn Følling, in 1934. Dr. Ivar Asbjørn Følling had received two young children, both of whom suffered from severe mental disabilities, and had a strange odor; for reasons unknown. Dr. Ivar Asbjørn Følling tested their urine, which also emitted the odor, to discover high amounts of phenylpyruvic acid.2 Phenylpyruvic acid is a product produced when the regular passageway of the catabolism of phenylalanine is blocked; the …show more content…
Symptoms include seizures, trembling, irregular skin conditions, hyperactivity, musty odor from the victim’s urine, breath, or skin, and stunted growth. The effects of phenylketonuria are mild to severe mental disabilities, an abnormally small head, heart defects, stunted growth, and that pregnant women may give birth to a child with these abnormalities.6 Kevin Alexander is a film producer, and sufferer of PKU. He says how his change in diet feels normal for him, as eating regular food is for regular people. Alexander says how his suffering of this has taught him to be grateful for everything in life. Alexander has recently started trying to educate the public on PKU, as he is always treated differently, which he dislikes. Despite the difference in treatment he gets from the public, Alexander says how he loves life, and that he has fully lived out his dreams of traveling around the world, and being a successful film producer. He says how grateful he is for his treatment, and how with it anybody with PKU can live out their dream as if they were completely

Phenylketonuria Research Paper

Phenylketonuria occurs in every 1 to 10,000 women, and is susceptible to European descents and Native Americans. Phenylalanine hydroxylase also known as the PAH gene, gives special instructions to phenylalanine in order for its breakdown. Phenylalanine hydroxylase…

Words 744 - Pages 3

Phenylketonuria Research Paper

Phenylketonuria Even though Phenylketonuria is rare, please be aware! Phenylketonuria or as usually known as PKU is an innate disorder of metabolism that causes an increase in the blood of a substance recognized as phenylalanine. It is caused by the heredity of the human body and be diagnosed. However, PKU could be possibly found through symptoms such as mental retardation and other severe symptoms. Strict diets are also an example of treatments for PKU. The way PKU is diagnosed is through a test…

Words 529 - Pages 3

Phenylketonuria Research Paper

Introduction Phenylketonuria (PKU) is an autosomal recessive inherited condition[1] which causes a build up in the concentration of phenylalanine (Phe) in the blood. A deficiency in phenylalanine hydroxylase (PAH), which is found in the liver[2-3] causes this build up as this is the enzyme which catalyses the reaction which adds a hydroxyl group to Phe to form tyrosine (Tyr).[1] Due to the congenital nature of this condition, it is tested for just after the time of birth by testing the a blood…

Words 1250 - Pages 5

Phenylketonuria Research Paper

Phenylketonuria is not a very common genetic disease. Results show that it only affects one out of fifteen thousand babies born in the United States. Phenylketonuria is commonly known as PKU, but can be known as PAH deficiency, hyperphenylalaninemia. PKU was first named by a Norwegian physician named Asbjørn Følling. He is one of the first physicians to apply chemical methods to the study of medicines. In 1934, a mother of two intellectually impaired children found Dr. Følling and asked for his help…

Words 1024 - Pages 5

Research Paper On Autism

Notes on Autism/ What is Autism? Autism is a lifelong developmental disability that affects how a person communicates with, and relates to, other people. It also affects how they make sense of the world around them. Autism is a spectrum condition, which means that, while all people with autism share certain difficulties, their condition will affect them in different ways. Autism Spectrum Disorder or ASD for short is a developmental disability that can cause social, communication and behavioral…

Words 1259 - Pages 6

Report: Autism and Wang Dafu Essay

Content Introduction 3 Description of Autism Spectrum Disorders 3 Movie Description 4 Character Description 5 Diagnosis 6 Course 11 Etiology 12 Treatment 15 Conclusion 22 References 24 Introduction Developmental Disorder is popular among children, but some parents might mistaken it with the children is being naughty or not paying attention and tolerate the disease. Children who are suffering from this disorder cannot acquire normal developmental skills of their age. There are many types of Childhood…

Words 4442 - Pages 18

Sources of Ethics Essay

TABLE OF CONTENTS 1.0- JOHN STEINER AND GEORGE STEINER SIX PRIMARY SOURCES OF ETHICS: 6 1- Religion: 6 2- Genetic Inheritance: 8 3- Philosophical Systems: 8 4- Cultural Experience: 8 5- The Legal System: 9 6- Codes of Conduct: 9 2.0- EXPLANATION OF THE SOURCES OF ETHICS: 10 2.1- RELIGION: 10 Teaching business ethics 12 2.11- Impact Of Religiosity: 13 2.12- Ethics Of Islam: 14 Nature of Islamic Ethics 17 The Human-Environment Relationship: 20 The Sustainable…

Words 20200 - Pages 81