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    Von Gierke Disease, (Glycogen Storage Disorder I) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Von Gierke Disease, (Glycogen Storage Disorder I) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Von Gierke Disease, (Glycogen Storage Disorder I) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Ebook100 pages36 minutes

    Von Gierke Disease, (Glycogen Storage Disorder I) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

    By Kenneth Kee

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    About this ebook

    This book describes Von Gierke Disease, Diagnosis and Treatment and Related Diseases
    Glucose-6-phosphatase deficiency (G-6-P Deficiency) is the cause of type Ia and should not be confused with glucose-6-phosphate dehydrogenase deficiency (G6PD Deficiency).

    Von Gierke disease is a disorder in which the body cannot break down glycogen.
    Glycogen is a storage form of sugar (glucose) that is amassed in the liver and muscles.
    It is normally broken down into glucose to give the patient more energy when the patient needs it.
    Von Gierke disease is also termed the Type I glycogen storage disease (GSD I).
    Von Gierke's disease signifies the largest cluster of glycogen storage disorders (GSDs).
    There is an enzyme defect in glucose-6-phosphatase so that glucose-6-phosphate cannot be converted into free glucose but is metabolized to lactic acid or integrated into glycogen.
    The liver and kidneys are affected and hypoglycemia is a major feature.
    Large quantities of glycogen are formed and stored in liver cells, renal and intestinal mucosa cells.
    The liver and kidneys become swollen.
    Abnormalities of lipids may cause xanthoma (yellow nodule on the skin, caused by deposition of lipids) formation.
    Uric acid is often raised and may cause medical gout.
    Galactose, fructose and glycerol are metabolized to lactate.
    The raised blood lactate levels cause metabolic acidosis.
    Type Ia has glucose-6-phosphatase deficiency in the liver and type Ib has normal activity.
    Causes:
    Von Gierke disease is inherited as an autosomal recessive disorder.
    Von Gierke disease happens when the body lacks the protein (enzyme) that breaks down glycogen into glucose.
    This produces abnormal quantities of glycogen to accumulate in certain tissues.
    When glycogen is not broken down suitably, it results in low blood sugar.
    Von Gierke disease is inherited, which indicates it is passed down through families.
    If both parents have a nonworking copy of the gene linked to this disorder, each of their children has a 25% (1 in 4) chance of forming the disease.
    Symptoms
    1.Constant hunger
    2.Easy bruising and nosebleeds
    3.Fatigue
    4.Irritability
    5.Puffy cheeks, thin chest and limbs, and swollen belly
    The manifestation is normally soon after birth.
    Shortly after birth, hypoglycemia and lactic acidosis often produce convulsions.
    More moderate hypoglycemia can produce:
    1.Irritability,
    2.Pallor,
    3.Cyanosis,
    4.Hypotonia,
    5.Tremors,
    6.Loss of consciousness, and
    7.Apnea.
    In the first weeks of life the liver is normal in size but it expands to produce marked abdominal distension.
    Growth is retarded and height is normally below the third percentile.
    Mental development is normal.
    Diagnosis
    The doctor will do a physical examination showing:
    1.Delayed puberty
    2.Enlarged liver
    3.Gout
    4.Inflammatory bowel disease
    5.Liver tumors
    6.Severe low blood sugar
    7.Stunted growth or failure to grow
    Children with this disorder are normally diagnosed before age 1.
    Blood glucose and pH are normally low with raised lactate, uric acid, triglyceride and cholesterol.
    Renal function tests: the blood creatinine and urea may be raised.
    FBC: anemia
    Diagnosis is made by:
    1.Biopsy of liver or kidney
    2.Genetic testing
    Treatment
    The purpose of treatment is to prevent low blood sugar.
    The patient should eat often during the day, especially carbohydrates.
    Older children and adults may take corn-starch by mouth to raise their carbohydrate intake.
    In some children, a feeding tube is inserted through their nose into the stomach to give sugars or cornstarch throughout the night.
    The doctor may also give medicines to treat kidney disease, high lipids, gout.
    Nasogastric tube feeding is needed continually by all infants.

    TABLE OF CONTENT
    Introduction
    Chapter 1 Von Gierke

    LanguageEnglish
    PublisherKenneth Kee
    Release dateOct 4, 2018
    ISBN9780463907979
    Von Gierke Disease, (Glycogen Storage Disorder I) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Author

    Kenneth Kee

    Medical doctor since 1972.Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009.Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993.Dr Kenneth Kee is still working as a family doctor at the age of 74However he has reduced his consultation hours to 3 hours in the morning and 2 hours inthe afternoon.He first started writing free blogs on medical disorders seen in the clinic in 2007 on http://kennethkee.blogspot.com.His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.comThis autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com.From which many free articles from the blog was taken and put together into 1000 eBooks.He apologized for typos and spelling mistakes in his earlier books.He will endeavor to improve the writing in futures.Some people have complained that the simple guides are too simple.For their information they are made simple in order to educate the patients.The later books go into more details of medical disorders.He has published 1000 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter.The purpose of these simple guides is to educate patient on health disorders and not meant as textbooks.He does not do any night duty since 2000 ever since Dr Tan had his second stroke.His clinic is now relocated to the Buona Vista Community Centre.The 2 units of his original clinic are being demolished to make way for a new Shopping Mall.He is now doing some blogging and internet surfing (bulletin boards since the 1980's) startingwith the Apple computer and going to PC.The entire PC is upgraded by himself from XT to the present Pentium duo core.The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive.He is also into DIY changing his own toilet cistern and other electric appliance.His hunger for knowledge has not abated and he is a lifelong learner.The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned.This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale.Dr Kee is the author of:"A Family Doctor's Tale""Life Lessons Learned From The Study And Practice Of Medicine""Case Notes From A Family Doctor"

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      Book preview

      Von Gierke Disease, (Glycogen Storage Disorder I) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions - Kenneth Kee

      Von Gierke Disease,

      (Glycogen Storage Disorder I)

      A

      Simple

      Guide

      To

      The Condition,

      Diagnosis,

      Treatment

      And

      Related Conditions

      By

      Dr Kenneth Kee

      M.B.,B.S. (Singapore)

      Ph.D (Healthcare Administration)

      Copyright Kenneth Kee 2018 Smashwords Edition

      Published by Kenneth Kee at Smashwords.com

      Dedication

      This book is dedicated

      To my wife Dorothy

      And my children

      Carolyn, Grace

      And Kelvin

      This book describes Von Gierke Disease, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

      (What The patient Need to Treat Von Gierke Disease)

      This eBook is licensed for your personal enjoyment only. This eBook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each reader.

      If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy.

      Thank you for respecting the hard work of this author.

      Introduction

      I have been writing medical articles for my blog: http://kennethkee.blogspot.com (A Simple Guide to Medical Disorder) for the benefit of my patients since 2007.

      My purpose in writing these simple guides was for the health education of my patients.

      Health Education was also my dissertation for my Ph.D (Healthcare Administration).

      I then wrote an autobiolographical account of his journey as a medical student to family doctor on his other blog: http://afamilydoctorstale.blogspot.com.

      This autobiolographical account A Family Doctor’s Tale was combined with my early A Simple Guide to Medical Disorders into a new Wordpress Blog A Family Doctor’s Tale on http://kenkee481.wordpress.com.

      From which many free articles from the blog was taken and put together into 800 eBooks.

      Some people have complained that the simple guides are too simple.

      For their information they are made simple in order to educate the patients.

      The later books go into more details of medical disorders.

      The first chapter is always from my earlier blogs which unfortunately tends to have typos and spelling mistakes.

      Since 2013, I have tried to improve my spelling and writing.

      As I tried to bring the patient the latest information about a disorder or illness by reading the latest journals both online and offline, I find that I am learning more and improving on my own medical knowledge in diagnosis and treatment for my patients.

      Just by writing all these simple guides I find that I have learned a lot from your reviews (good or bad), criticism and advice.

      I am sorry for the repetitions in these simple guides as the second chapters onwards have new information as compared to my first chapter taken from my blog.

      I also find repetition definitely help me and maybe some readers to remember the facts in the books more easily.

      I apologize if these repetitions are irritating to some readers.

      Chapter 1

      Von Gierke disease (Glycogen storage disease I)

      Glucose-6-phosphatase deficiency (G-6-P Deficiency) is the cause of type Ia and should not be confused with glucose-6-phosphate dehydrogenase deficiency (G6PD Deficiency).

      What is Von Gierke disease?

      Von Gierke disease is a disorder in which the body cannot break down glycogen.

      Glycogen is a storage form of sugar (glucose) that is amassed in the liver and muscles.

      It is normally broken down into glucose to give the patient more energy when the patient needs it.

      Von Gierke disease is also termed the Type I glycogen storage disease (GSD I).

      Von Gierke's disease signifies the largest cluster of glycogen storage disorders (GSDs).

      There is an enzyme defect in glucose-6-phosphatase so that glucose-6-phosphate cannot be converted into free glucose but is metabolized to lactic acid or integrated into glycogen.

      The liver and kidneys are affected and hypoglycemia is a major feature.

      Large quantities of glycogen are formed and stored in liver cells, renal and intestinal mucosa cells.

      The liver and kidneys become swollen.

      Abnormalities of lipids may cause xanthoma (yellow nodule on the skin, caused by deposition of lipids) formation.

      Uric acid is often raised and may cause medical gout.

      Galactose, fructose and glycerol are metabolized to lactate.

      The raised blood lactate levels cause metabolic acidosis.

      Classification

      Type

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