Everand Logo

Welcome to Everand!

  • Discover millions of ebooks, audiobooks, and so much more with a free trial

    From $11.99/month after trial. Cancel anytime.

    Fast Facts: Pyruvate Kinase Deficiency
    Fast Facts: Pyruvate Kinase Deficiency
    Fast Facts: Pyruvate Kinase Deficiency
    Ebook107 pages50 minutes

    Fast Facts: Pyruvate Kinase Deficiency

    By Bertil Glader, Wilma Barcellini and Rachael Grace

    ()

    Read preview

    About this ebook

    You may be unfamiliar with pyruvate kinase (PK) deficiency. It is a rare inherited enzyme disorder that affects the glycolytic pathway used by red blood cells to generate energy, manifesting as hemolytic anemia. The symptoms vary greatly between individuals, making diagnosis difficult, and management primarily comprises supportive treatments. Written by experts in the field, 'Fast Facts: Pyruvate Kinase Deficiency' provides a comprehensive introduction to the condition, including details of: ; the underlying defect; its mode of inheritance, and the relationship between genotype and phenotype; how the condition manifests; the fundamentals of diagnosis and how to differentiate it from a heterogeneous group of hemolytic disorders; monitoring and managing the complications that may arise. 'Fast Facts: Pyruvate Kinase Deficiency' will be of interest to primary care providers, hematologists, oncologists, pediatricians, internal medicine specialists, hematology nurses and medical students; indeed, anyone who wishes to learn more about this rare genetic blood disorder.
    LanguageEnglish
    PublisherS. Karger
    Release dateAug 27, 2018
    ISBN9781910797891
    Fast Facts: Pyruvate Kinase Deficiency

    Related to Fast Facts

    Related ebooks

    Medical For You

    View More
    View More

    Related podcast episodes

    Related articles

    • UNLIMITED

      Beauty In The Time Of COVID

      Mar 8, 2022

      The pandemic has changed many things in our lives. One of them is that. as we are confined to our homes. we are increasingly depending on online services for entertainment. education. and work. It’s a well-known fact that on line media has heavily in

      2 min read

    • UNLIMITED

      Future-Proof the PLANET

      Mar 8, 2022

      Future-Proof the PLANET
      6 min read

    • UNLIMITED

      Gut-friendly Greatness

      Aug 8, 2018

      Words PETE EVANS Photography MARK ROPER & WILLIAM MEPPEM Did you know you’ve got one to three kilograms of bacteria (that’s trillions of ‘em!) residing in your large intestine? Collectively known as the gut microbiome, these micro-organisms are centr

      9 min read

    • UNLIMITED

      Low Tox Life Food:

      Dec 15, 2021

      Low Tox Life Food:
      1 min read

    • UNLIMITED

      Why We Eat Meat

      Feb 23, 2018

      Why We Eat Meat
      5 min read

    • UNLIMITED

      Over To You

      Sep 20, 2022

      We pay £50 for Letter of the Month and £30 for all others I couldn’t agree more with Dr Max’s belief that the empathy shown by a doctor is key in a patient’s evaluation of the treatment received. While having a colonoscopy without sedation I was work

      2 min read

    • UNLIMITED

      10 Steps To A Healthier Heart

      Jul 4, 2021

      We all feel better after a good night’s sleep. It’s essential for your body to recuperate, and without sufficient sleep, you could be putting your heart at risk. Sleep deprivation heightens the risk of heart attack, with one study finding that people

      3 min read

    • UNLIMITED

      7 Sleep-boosting Foods

      Oct 11, 2023

      7 Sleep-boosting Foods
      6 min read

    • UNLIMITED

      Doctor Gill

      Jun 26, 2024

      This is a clinical sign of yellow pigmentation of skin, eyes and mucous membranes Jaundice results from raised blood and tissue levels of bilirubin, a by-product of broken-down red blood cells, usually managed by the liver and passed out in bile. It

      3 min read

    • UNLIMITED

      How Blood Transfusions Work

      Aug 3, 2023

      How Blood Transfusions Work
      2 min read

    • UNLIMITED

      Coping with... PARATHYROID DISEASE

      Aug 4, 2022

      Coping with... PARATHYROID DISEASE
      2 min read

    • UNLIMITED

      Dr Gill

      Sep 28, 2022

      Dr Gill
      3 min read

    • UNLIMITED

      A Rare Case Of Incidentally Diagnosed Compound Hb S/betathalassemia At 40 Years Of Age

      Mar 1, 2022

      1 Department of Pathology, Aster Hospital, Muscat, Oman. 2 Department of Internal Medicine and ICU, Aster Hospital, Muscat, Oman. Key Words Compound sickle cell β thalassemia, chronic anaemia, sickle cell disease, haemoglobin electrophoresis, Hb S, H

      4 min read

    • UNLIMITED

      Drug-free Options For An Enlarged Prostate

      Jan 23, 2022

      Drug-free Options For An Enlarged Prostate
      5 min read

    • UNLIMITED

      Heart Failure Cause May Differ In Women And Men

      May 30, 2024

      A new study finds striking differences at the cellular level between male and female mice with heart failure with preserved ejection fraction. The findings could determine how heart failure with preserved ejection fraction (HFpEF) is treated in women

      3 min read

    • UNLIMITED

      Dr Gill

      Jun 15, 2022

      Dr Gill
      3 min read

    • UNLIMITED

      A Metabolic Master

      Jul 11, 2024

      A Metabolic Master
      4 min read

    Related categories

    Reviews for Fast Facts

    0 ratings

    0 ratings0 reviews

    What did you think?

    Tap to rate

    Review must be at least 10 words

      Book preview

      Fast Facts - Bertil Glader

      Introduction

      Red blood cell pyruvate kinase (PK) deficiency is an inherited disease manifesting as hemolytic anemia. PK deficiency is a lifelong condition, with symptoms that range from mild to severe. Despite an ever-growing understanding of its pathophysiology, etiology and epidemiology, and an active research program, PK deficiency remains unfamiliar to many medical practitioners.

      Here, we provide a concise guide to PK deficiency for primary care providers, as well as hematologists, oncologists, pediatricians, internal medicine specialists, hematology nurses and medical students. As well as explaining the underlying defect, its mode of inheritance and how the condition manifests, we also discuss the diagnosis and differential diagnosis of PK deficiency, together with the complications that may arise and options for managing them.

      Each chapter is supported by key learning points and references for further reading, and we encourage you to take the free online FastTest that accompanies this resource at fastfacts.com to assess your understanding of this condition.

      We hope that this first edition of Fast Facts: Pyruvate Kinase Deficiency will be a useful resource for anyone who has an interest in learning more about this rare genetic blood disorder.

      Pyruvate kinase (PK) deficiency is the most common enzyme deficiency affecting the glycolytic pathway used by red blood cells (RBCs) to generate energy. PK is a tetrameric protein that catalyzes the conversion of phosphoenolpyruvate to pyruvate, one of two energy-generating steps in glycolysis.

      PK deficiency was first described in 1961.¹ It is inherited in an autosomal recessive manner ² and presents as a congenital non-spherocytic hemolytic anemia.³

      To understand the impact of PK deficiency, it is necessary to review the overall metabolism in RBCs.

      Metabolic pathways in normal red blood cells

      Mature RBCs lack a nucleus, ribosomes and mitochondria: as a result, they are incapable of cell division and protein synthesis, and are unable to generate energy through oxidative phosphorylation, as occurs in other cell types. Instead, RBCs rely on breaking down glucose to pyruvate and lactate to produce

      Enjoying the preview?
      Page 1 of 1
      pFad - Phonifier reborn

      Pfad - The Proxy pFad of © 2024 Garber Painting. All rights reserved.

      Note: This service is not intended for secure transactions such as banking, social media, email, or purchasing. Use at your own risk. We assume no liability whatsoever for broken pages.


      Alternative Proxies:

      Alternative Proxy

      pFad Proxy

      pFad v3 Proxy

      pFad v4 Proxy