A Simple Guide to Pompe Disease (Glycogen Storage Disease II), Diagnosis, Treatment and Related Conditions

By Kenneth Kee

This book describes Pompe Disease, Diagnosis and Treatment and Related Diseases

The film Extraordinary Measures is based on the true story of John and Aileen Crowley, whose children have Pompe disease.
By the year 2000, with the help of a scientist friend, John Crowley raised enough money to start a small biotech company in the hopes of finding a cure for Pompe disease.
His company helped to develop Myozyme, a drug used for treating Pompe disease, which became the first generation therapy that three years later their children received

Since then more than 1000 infants born worldwide every year with Pompe disease will no longer face the prospect of death before reaching their first birthday due to inadequate treatment.

Pompe disease is a genetic disorder caused by the buildup of a complex sugar termed glycogen in the body's cells.

The collection of glycogen in certain organs and tissues, particularly muscles, weakens their ability to function normally.

There are 2 major types of Pompe disease which differ in severity and the age at which they appear: early-onset and late-onset.

The infantile onset is often linked with a faster disease progression and severity than late onset.

Infantile onset Pompe disease (IOPD) or early Pompe disease comprises 2 types:

Classic onset: a baby shows symptoms within the first few months after birth

Infants with this disorder normally have muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart disorders.

Involved infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems.

If untreated, this type of Pompe disease leads to death from heart failure in the first year of life.

Non-classic onset: a baby is likely to show signs of the rare disease closer to age 1

It is featured by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness.

The heart may be abnormally enlarged (cardiomegaly), but involved patients usually do not experience heart failure.

The muscle weakness in this disease leads to serious breathing difficulties, and most children with non-classic IOPD live only into early childhood.

This type of Pompe disease is linked with a complete or near-complete deficiency of GAA.

This indicates that the person has very little or none of the enzyme required to help the body break down glycogen.

Late-onset Pompe disease (LOPD) or juvenile and adult Pompe disease, is linked with a partial deficiency of GAA.

LOPD may not become obvious until later in childhood, adolescence, or adulthood.

Compared with IOPD, this type takes a longer time before symptoms appear.

People with LOPD may start noticing symptoms as early as their first decade of life or as late as their sixth decade.

LOPD is milder than the infantile-onset forms of this disorder and is less likely to involve the heart.

Most persons with LOPD have progressive muscle weakness, particularly in the legs and the trunk such as the muscles that regulate breathing.

As the disorder advances, breathing difficulties can result in respiratory failure.

This type of Pompe disease does not damage the heart like IOPD.

The cause of Pompe disease is mutations in the GAA gene.

Acid alpha-glucosidase (GAA) enzyme assay and gene sequencing verifies the diagnosis

Enzyme replacement therapy (ERT) has been approved to treat all people with Pompe disease.

Gene therapy is another choice for treating Pompe disease.

TABLE OF CONTENT
Introduction
Chapter 1 Pompe Disease
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Von Gierke disease
Chapter 8 Glycogen Storage Disease
Epilogue

• Language: English
• Publisher: Kenneth Kee
• Release date: Jan 18, 2023
• ISBN: 9798215064207

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"

Book preview

A

Simple

Guide

To

Pompe Disease,

(Glycogen Storage Disease II)

Diagnosis,

Treatment

And

Related Conditions

By

Dr Kenneth Kee

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

Ph.D (Healthcare Administration)

Copyright Kenneth Kee 2023 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 Pompe Disease, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

(What You Need to Treat Pompe Disease)

This e-Book 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 autobiography account of my journey as a medical student to family doctor on my other blog: http://afamilydoctorstale.blogspot.com.

This autobiography 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.

My diagnosis and treatment capability has improved tremendously from my continued education.

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

The film Extraordinary Measures is based on the true story of John and Aileen Crowley, whose children have Pompe disease.

By the year 2000, with the help of a scientist friend, John Crowley raised enough money to start a small biotech company in the hopes of finding a cure for Pompe disease.

His company helped to develop Myozyme, a drug used for treating Pompe disease, which became the first generation therapy that three years later their children received

Since then more than 1000 infants born worldwide every year with Pompe disease will no longer face the prospect of death before reaching their first birthday due to inadequate treatment.

What is Pompe disease?

Pompe disease is a