Phenylketonura Case Study

Improved Essays
a. “Phenylketonura, or PKU, is an inborn error of metabolism characterized by the inability of the body to convert the essential amino acid phenylalanine to tyrosine” (Huether 416). PKU has an occurrence rate in the U.S. of 1:15,000. It is caused by the deficiency of phenylalanine hydroxylase. This deficiency causes phenylalanine to accumulate in the serum. Phenylalanine hydroxylase monitors and controls the conversion of the amino acid into tyrosine. Tyrosine is used with the biosynthesis or proteins, thyroxin, melanin, and catecholamines in the adrenal medulla and brain. There are however, different types of PKU. Some involve impairing the synthesis of cofactors which cause the elevation of phenylalanine levels. When these levels are

Related Documents

  • Improved Essays

    A. S AKI Case Study

    • 796 Words
    • 4 Pages

    point) Interpret A.S.’s laboratory test results and describe their significance to the patient’s disease process. Both the Hemoglobin and hematocrit are low which can be a sign of kidney failure. When the kidneys start to fail the amount of erythopoietin being relased c often times decreases and the erythopoietin is what stimulates the red bloos cell production. WBC’s are on the low side but still within normal range.…

    • 796 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Hesi Case Study Mariana

    • 1065 Words
    • 5 Pages

    1. Mariana’s microbiology results have led to the ruling out of any urinary tract infection (UTI), Gastroenteritis and malnutrition. The results show that her red and white cell count are within the normal range and also the epithelial cells found in the urine sample are of a moderate amount and there were no significant bacterial growth. Abnormalities in this results would have indicated to a UTI but the results were normal. According to Roche (2011), presence of bacteria, in addition to a high white blood count or epithelial cells in a fresh urine sample is a diagnostic of UTI, meaning Mariana is in the clear of any UTI.…

    • 1065 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    Respiratory acidosis (respiratory failure/ventilator failure) is an acid based disturbance characterized by abnormally high amounts of carbon dioxide gas dissolved in systemic arterial blood, above 45 mmHg (millimeter of mercury) and a deviation of pH away from the normal value of 7.4. The elevation in PCO2 has been never due to an increase in CO2 production. (Angus MD, 2006). Other causes include the presence of excessive carbon dioxide in inspired air (inhaled breath). Decreased alveolar ventilation (exhaled breath).…

    • 775 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Acetylferrocene Lab

    • 972 Words
    • 4 Pages

    Experiment 5: Separating Ferrocene and Acetylferrocene by Adsorption Column Chromatography AIM The primary goal of this experiment is to separate ferrocene and acetylferrocene using adsorption column chromatography. Additionally, a dry pack method with a micro scale column will be implemented, and the percent recovery for each compound will be computed. TABLE OF PHYSICAL PROPERTIES AND HAZARDS WITH STRUCTURES Ferrocene: - Physical Property: Solid Molecular Weight: 186.04 g/mole Boiling Point: 249 °C Melting Point: 173.5 °…

    • 972 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Laforin Isoform X4 Case 3

    • 269 Words
    • 2 Pages

    Case 3 Sequence 2: Laforin Isoform X4 (EPM2A) Lafora progressive myoclonus epilepsy is a brain disorder which results in frequent seizures along with a degeneration of intellectual function (“What is Lafora,” 2009). This is the worst teenage-onset progressive epilepsy. Progressive epilepsy means a condition that affects the central nervous system and grows increasingly worse over time (“Progressive Myoclonus Epilepsy”). The gene EPM2A, which provides instructions for creating the protein laforin influenced the survival of nerve cells, or neurons, in the brain (“What genes are related,” 2009).…

    • 269 Words
    • 2 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
  • Decent Essays

    Krebs Lab Report

    • 85 Words
    • 1 Pages

    Two adult C57BL/6 male and/or female black mice (20-30g) were Scheduled 1 euthanized by carbon dioxide asphyxiation and cervical dislocation according to the Animals Scientific Procedures Act 1986. The distal ileum (2-3cm) were dissected and mounted to the aerator, attached with a force transducer and placed in the organ bath (as shown in Figure 1) set between 32-37°C containing Krebs solution. Krebs solution was prepared making up 25L in volume with the following added in a large beaker with distilled water, continuously stirring in…

    • 85 Words
    • 1 Pages
    Decent Essays
  • Improved Essays

    Ammonia has direct access to the circulatory system and it is able to reach the brain. Only a small amount can leak through the blood-brain barrier , but if the levels of NH3 in blood are very high, then more of it will enter. An excess of ammonia is toxic and causes neurological disorders and damages, leading to a condition called Encephalopathy. As listed in the case, possible symptoms are disorientation, lethargy, slurred speech, behavior change and also motor skills impairments such as Asterixis and hyperreflexia. Brain hyperammonemia initiates a series of reactions with major consequences: swelling of astrocytes (glial cells) with related communication problems between neurons, and disruption of cerebral metabolism and energy production.…

    • 420 Words
    • 2 Pages
    Improved Essays
  • Decent Essays

    9.8. Brain– heart infusion (BHI) broth (DIFCO) Infusion of calf brain ..............................................................................................200 g Infusion of beef heart ............................................................................................. 250 g Proteose peptone .................................................................................................... 10.0 g Glucose....................................................................................................................2.0 g Sodium chloride, NaCl ...........................................................................................5.0 g Disodium hydrogen phosphate, Na2HPO4 ............................................................…

    • 50 Words
    • 1 Pages
    Decent Essays
  • Improved Essays

    Krabbe disease Brief description of the disorder: Krabbe disease, a rare genetic degenerative disorder of the central and peripheral nervous systems. It is initiated from a lack of galactocerebrosidase, a vital enzyme for myelin metabolism. This disease is one of a group of genetic disorders called the leukodystrophies, which affects the growth of development of the myelin sheath, the fatty substance that insulates and protects the nerves in the brain and spinal cord. The myelin sheath continues to develop after birth, with the growth rate peaking before 18 months of age. The myelin sheath is completely developed when a person is about 20 years old.…

    • 446 Words
    • 2 Pages
    Improved Essays
  • Great Essays

    Biogenic Amines are Amino Acid Tyrosine based. Catecholamines such as dopamine, norepinephrine, epinephrine, and Indolamines, they are allocated in the brain, they are responsible for emotions, body clock regulatory, and excitation behaviours. Amino acid compound neurotransmitters such as Glutamate and Gama-aminobutyric acid (GABA). Glutamate relates to promotion of excitement, they work in the moderation of soreness, and increment of Enkephalin activity in women in labour.…

    • 1627 Words
    • 7 Pages
    Great Essays
  • Improved Essays

    Ketamine Case Studies

    • 709 Words
    • 3 Pages

    Ketamine shows an excellent short term response rate when utilized as a series of treatments, especially when compared to traditional antidepressant response rates within the same time period (Zhang et al., 2015). This research seems to indicate that there are statistically significant response to ketamine as an anti-depressant for use in patients with depressive disorders (Lee, Della Selva, Liu and Himerlhoch, 2015), but there are several issues that restrict its use. The most prominent issue of this treatment is the relatively short lived nature of the therapeutic effect of ketamine on a majority of patients, with a small outlying group of patients that showed longer term benefit; often months long benefit (Murrough et al, 2013). This short…

    • 709 Words
    • 3 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
  • Superior Essays

    Ketamine Case Study Essay

    • 1611 Words
    • 7 Pages

    Lucy has lived a life of depression, constantly feeling alone, upset or worthless. Living with alcoholic parents drove her to become an alcoholic as well. Week after week she would come home to find her parents arguing about her. She found everything to be her fault, and she regretted being alive. Lucy was affected by depression.…

    • 1611 Words
    • 7 Pages
    Superior Essays
  • Improved Essays

    Kazoil Case Study Essay

    • 922 Words
    • 4 Pages

    Primary Problem Due to the acquisition of the company by Canada Corporation (Hydrocarbon Ltd.) and later China Petrol in 2005, there has been changing at the management level. As a result of this, the company was forced to follow different human resource strategies that are prevalent and are operational according to the cultures of China and Canada. It also brought in changes in corporate culture as well as management style. Coming out of a different political and cultural background, the employees found it challenging to cope up with the new scenario and hence it was considered to be a primary problem.…

    • 922 Words
    • 4 Pages
    Improved Essays