Hunter Syndrome, (Mucopolysaccharidosis type II) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

By Kenneth Kee

This book describes Hunter Syndrome, Diagnosis and Treatment and Related Diseases
Hunter syndrome (Mucopolysaccharidosis type II) is a very infrequent, inherited genetic disorder produced by a missing or malfunctioning enzyme.

Since the body does not have enough of the enzyme to break down certain complicated molecules, the molecules accumulate in harmful quantities.

In Hunter syndrome, the accumulation of huge quantities of these harmful substances ultimately causes permanent, progressive injury involving:
1.Appearance,
2.Mental development,
3.Organ function and
4.Physical abilities
Causes
Hunter syndrome (MPS II) is a familial disorder.
This indicates that it is inherited (passed down) through families.
The disorder is X-linked recessive (Xq28).
Boys are most often involved because their X chromosome is inherited from their mothers.
Their mothers may not have symptoms of the disease as they carry a nonworking copy of the gene.
Hunter syndrome forms when a defective X chromosome is inherited from the child's mother.
Due to that defective chromosome, an enzyme that is required to break down complex sugar molecules is absent or malfunctioning.
Without this enzyme, large quantities of these complex sugar molecules accumulate in the cells, blood and connective tissues, producing permanent and progressive injury.
Hunter syndrome is formed because of the lack of the enzyme iduronate sulfatase.
Without this enzyme, chains of sugar molecules collect in various body tissues, producing damage.
The early-onset, severe type of this disease starts shortly after age 2.
A late-onset, milder type causes less serious symptoms to occur later in life.
Symptoms
In the early-start, severe form, the symptoms are:
1.Aggressive behavior
2.Hyperactivity
3.Mental function gets worse over time
4.Severe intellectual disability
5.Jerky body movements
In the late or mild type, there may be mild to no mental deficiency.
In both forms, symptoms are:
1.Carpal tunnel syndrome
2.Coarse features of the face
3.Deafness (gets worse over time)
4.Increased hair growth
5.Joint stiffness
6.Large head
Diagnosis:
A physical exam and tests may show:
1.Abnormal retina (back of the eye)
2.Reduced iduronate sulfatase enzyme in blood serum or cells
3.Heart murmur and leaky heart valves
4.Enlarged liver
5.Enlarged spleen
6.Hernia in the groin
7.Joint contractures (from joint stiffness)
Tests may be:
1.Enzyme study
2.Genetic testing for a change in the iduronate sulfatase gene
3.Urine test for heparan sulfate and dermatan sulfate
Babies born with Hunter syndrome almost always seem healthy at birth.
Changes in facial appearance are often the first observable sign that something is not right.
Blood, urine or tissue samples can be examined for the deficient enzyme or for excess quantities of the complex sugar molecules in this disorder.
A genetic analysis can confirm the diagnosis.
Treatment:
There is no curative treatment for Hunter syndrome.
The treatment focuses on treating signs, symptoms and complications to provide some relief for the child as the disease worsens.
Respiratory complications
Removal of tonsils and adenoids can widen the child's airway and help alleviate sleep apnea.
Heart complications
The child's doctor will need to monitor closely for cardiovascular complications, such as high blood pressure, heart murmur and leaky heart valves
Neurological complications
The child's doctor may advise surgery to drain out excess fluids from brain.
The doctor may give anticonvulsants for seizures
Medicines such as sedatives and melatonin can improve sleep.
Enzyme replacement therapy and gene therapy may help.
Bone marrow transplant did not worked very well.

TABLE OF CONTENT
Introduction
Chapter 1 Hu

• Language: English
• Publisher: Kenneth Kee
• Release date: Oct 4, 2018
• ISBN: 9780463898079

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

Hunter Syndrome,

(Mucopolysaccharidosis type II)

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 Hunter Syndrome, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

(What The patient Need to Treat Hunter Syndrome)

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

Hunter Syndrome

What is Hunter syndrome?

Hunter syndrome (Mucopolysaccharidosis type II) is a very infrequent, inherited genetic disorder produced by a missing or malfunctioning enzyme.

Since the body does not have enough of the enzyme to break down certain complicated molecules, the molecules accumulate in harmful amounts.

In Hunter syndrome, the accumulation of huge quantities of these harmful substances ultimately causes permanent, progressive injury involving:

1. Appearance,

2. Mental development,

3. Organ function and

4. Physical abilities.

Incidence

The incidence is between 1 in 140,000 and 1 in 156,000 live births

Hunter syndrome happens in children as young as 18 months.

It mainly happens in boys, even though very rarely it has been seen in girls.

Hunter syndrome (MPS II) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules.

These chains of molecules are called glycosaminoglycans (previously called mucopolysaccharides).

As a result of the lacking enzyme, the molecules collect in different parts of the body and produce different health problems.

The disorder belongs to a group of diseases called mucopolysaccharidoses (MPSs).

MPS II is also termed Hunter syndrome.

There are several other types of MPSs such as:

1. MPS I (Hurler syndrome)

2. MPS III (Sanfilippo syndrome)

3. MPS IV (Morquio syndrome)

What are the causes of Hunter syndrome?

Causes