Phenylketonuria Physiology

Improved Essays
Metabolism is the process that occurs within the body consisting in transforming food and/or other substances into energy. The food we eat is made up of various substances such as carbohydrates, proteins and fats. During the metabolism phase, those substances are breaking down into sugars and acids, storing in the body tissues, liver or other muscles and serve as fuel making it possible the functioning of our body.
Metabolic disorder, in fact, takes place when abnormal chemical reactions in your body prevent that process from happening or completing. There are different groups of disorder though; some of them would affect the breakdown of food and some others the cells that produce the energy. While metabolic disorders are various, in this assignment I would like to explore and describe the Phenylketonuria. “PKU causes an inability to produce the enzyme, phenylalanine hydroxylase, resulting in organ damage, mental retardation and unusual posture,” (Healthline, 2013).
…show more content…
PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine,” (n d). So, when a person with PKU eats food with high in protein, if the necessary enzymes need to produce Phenylalanine is insufficient this will result in serious life problems. As such this person will have to follow a diet, consuming foods that are rich in protein.
Karen Gill in an article published in 2017, has written down some characteristics or symptoms of a person having

Related Documents

  • Improved Essays

    *What additional questions would you want to know to help clarify diagnoses and also to direct treatment? I would want to know a little more about the relationship the patient was in. How long had they been together? If it were a newer relationship, that feeling of being “bored” may not be as significant. I would want to ask about past relationships that the patient has had feelings of being “bored” in other relationships?…

    • 447 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    CARBON DIOXIDE PRODUCTION IN NATURE Introduction: Most people are familiar with the process of the metabolism, but for those who are not, metabolism is the sum total of all the chemical reactions that occur in a living organism. Most people recognize it by how fast they burn off food to create energy. Some people have a fast metabolic rate, others have a much slower energy rate. Today, we are going to measure the metabolic rates of 6 different organisms and situations to test who has a higher metabolic rate than the other.…

    • 1742 Words
    • 7 Pages
    Improved Essays
  • Improved Essays

    HHS advances to an alteration of sensorium affected by insulin resistance resulting in a destruction of fluids and electrolytes. Unlike DKA, the ketones are absent in this case and do lead to dehydration as well. Risk factors consist of older adults who have the insufficient amount of fluid intake, have decreased kidney function, and have a residual of insulin secretion, sepsis, MI, and some medications. DKA and HHS share some similar symptoms, laboratory test, and treatment. Symptoms carry polyuria, polydipsia, blurred vision, etc.…

    • 1574 Words
    • 6 Pages
    Improved Essays
  • Improved Essays

    Because of the deficiency of glucose-6 phosphatase enzyme, glucose-6-phosphate cannot be converted into free glucose. Instead, it is hydrolyze into lactic acid which causes the high levels of lactate in urine. 3. What evidence suggests that phosphoglucomutase levels in the patient were normal?…

    • 475 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    How can diet and exercise affect your overall rate of metabolism? Conduct additional research to answer each of the following questions in your own words (do not copy and paste from your research sources): a. How much energy per gram is in each of the three main nutrients (fat, carbohydrate, and protein)? There are 17kJ (4 kcal) of energy per gram of carbohydrates, 17kJ (4kcal) of energy per gram of protein and 37kJ (9 kcal) of energy per gram of fat. b.…

    • 564 Words
    • 3 Pages
    Improved Essays
  • Decent Essays

    In most cases, a chemical reaction is able to occur in more than one way; enzyme kinetics studies the effect of how biological catalysts can influence biochemical reactions. Enzymes play an important role in regulating metabolic pathways in the human body and without enzymes they will not function efficiently. The rate of a reaction is enhanced by enzyme activity which provides alternate pathways for the reaction to proceed by.…

    • 177 Words
    • 1 Pages
    Decent Essays
  • Superior Essays

    Toothpickase Lab Report

    • 3076 Words
    • 13 Pages

    An Introduction to Metabolism. In AP EditionBiology (9th ed.). New York: Benjamin/Cummings. 2. Cooper, Geoffrey.…

    • 3076 Words
    • 13 Pages
    Superior Essays
  • Improved Essays

    Phenylketonuria (PKU)

    • 943 Words
    • 4 Pages

    Phenylketonuria (PKU) is a disorder that can be passed down from generation to generation. It is caused by a deficient hepatic phenylalanine hydroxylase (PAH), which is an enzyme in the liver that catalyzes the conversion of phenylalanine to tyrosine, using the coenzyme, tetrahydrobiopterin (BH4). One treatment for PKU would be to have a restricted diet because PKU does not allow for the process of phenylalanine, which is a protein found in many foods (Scala et al 2015). With the help of BH4, patients are able to decrease their blood Phe concentration and/or increase their dietary tolerance. If PKU were to go untreated, it could result in neurological deformities such as brain damage.…

    • 943 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Integumentary Disease: Phenylketonuria Skin diseases vary from case to case, whether it is a common case or a rare case, like phenylketonuria. Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a negative body affliction causing inability to metabolize the amino acid phenylalanine. The disease can cause Mental health issues as well as others because of the excess of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, called tyrosine, it can create other enzyme routes that build up in the bloodstream and in body tissue. This is EXTREMLY harmful to both the body and the development of it.…

    • 404 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Gibb

    • 895 Words
    • 4 Pages

    Every single movement, even the tiniest one, of our body requires energy. Human body constantly undergoes pathways and chemical reactions to maintain life. All reactions belong to metabolism, featuring catabolic reactions: break down of molecules into simple end products, or anabolic reactions: conversions of small precursor molecules into more complex ones. These pathways also feature Gibb’s free energy(∆G), which refers to the energy available for the reaction. If ∆G is positive, that means the reaction is endergonic and has produced energy.…

    • 895 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Goldfish Metabolism

    • 1824 Words
    • 8 Pages

    Metabolism is often viewed as an organic and chemical process that occurs in living organisms which are essential in maintaining life. The main purpose of this mechanism is to convert digested food/fuel to energy and building block for macromolecules, while also eliminating nitrogenous waste through anabolic and catabolic reactions. Catabolic reactions are chemical reactions that breakdown complex organic molecules into simple molecules while releasing energy that is stored within ATP. This stored energy is used to drive anabolic reactions. Anabolic reactions synthesize macromolecules such as proteins, lipids, nucleic acids and carbohydrates in addition to storing energy.…

    • 1824 Words
    • 8 Pages
    Improved Essays
  • Improved Essays

    DKA is a medical emergency that requires immediate care and which can have fatal consequences if misdiagnosed (Hardern & Quinn, 2003). The goal of care in John’s case was to confirm the diagnosis and its severity through appropriate diagnostic tests and to commence treatment with the aim of establishing rehydration within 24 hours; stabilising serum glucose within 6 hours; stabilizing electrolytes within 6 hours; and resolution of ketosis and acidosis within 12 hours (lelena, & Andrew,…

    • 1104 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    Enzyme testing is required to diagnose PDD and to distinguish it from similar conditions (Frye, 2014). Treatment is generally aimed at stimulating the pyruvate complex or providing an alternative source of energy for the brain. Cofactor Supplements containing thiamine, carnitine and lipoic acid is the most common form of treatment, as it optimizes PDC function, facilitates fatty acid transport and increases ATP production (Brown, 2012). Ketogenic diets with restricted carbohydrate intake have been recommended to control lactic acidosis, but have had minimal success (Frye, 2014). Dichloroacetate is currently being tested to determine its effectiveness in treating lactic acidosis, but it has significant side effects that may limit its effectiveness, such as peripheral neuropathy.…

    • 1007 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    In this assignment I will be explaining the physiology of two body systems, the cardiovascular system and the respiratory system in the relation to energy metabolism in the body. Energy metabolism is where energy is generated from nutrients and delivered to the organs around the body. Energy is needed in the body in order muscular movement, circulation of the blood, lymph and tissue fluid, breathing process, cell growth and repair, the transition of nerve impulses and for the building of different complex molecules. The cardiovascular system There are four major functions of the cardiovascular system, these include: the transportation of nutrients, gases and waste products around the body, the protection of the body from infections and blood…

    • 1210 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    Malabsorption Syndrome

    • 667 Words
    • 3 Pages

    11.) Malabsorption syndrome includes a variety of disorders in which the intestine is unable to properly absorb specific nutrients into the bloodstream (Cafasso & Kerr, 2015). This can hinder the absorption of various macronutrients such as proteins, carbohydrates, and fats, macronutrients (vitamins and minerals), or even both (Cafasso & Kerr, 2015). Moreover, malabsorption syndrome happens when there is something preventing the bowel from taking in important fluids and nutrients. It can be caused by intrinsic disease, inflammation, or harm to the lining of the intestine (Cafasso & Kerr, 2015).…

    • 667 Words
    • 3 Pages
    Improved Essays