CPT Deficiency, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

By Kenneth Kee

This book describes CPT Deficiency, Diagnosis and Treatment and Related Diseases

I was watching this show DIAGNOSIS on Netflix which featured a girl named Angel with symptoms included muscle pain, aches and fatigue that developed after exercise.
On numerous hospital visits, she had elevated creatine kinase levels in her blood, which is a sign of muscle breakdown.
She also had dark-colored urine, a finding that indicates either higher red blood cell breakdown (due to pigmentation from a red blood cell oxygen-binding protein called hemoglobin) or higher muscle breakdown (due to a protein related to hemoglobin found only in muscles called myoglobin).
When the body starts to run out of sugar during exercise, it turns to fats for its energy source.
CPT2 is one of the molecules affected in the pathway of transporting fatty acids into energy-producing structures inside the cells called mitochondria.
If CPT2 is not functional, it can cause muscle breakdown as the muscles run out of their energy source.
CPT2 is rare and the diagnosis is finally made by a health team in Turin, Italy using genetic testing

Carnitine palmitoyltransferase (CPT) deficiency is a very rare disorder that produces muscle weakness and other symptoms.
It happens due to a genetic disease with 1 of 2 enzymes, CPT1 or CPT2 deficient.
Enzymes are substances in the body that help produce chemical reactions.
CPT enzymes help to force fatty acids into cells to usage for energy.
They are particularly important for certain cells, such as muscle cells.
With CPT deficiency, cells that depend on fatty acids for energy may start to work poorly.
This causes the symptoms such as muscle weakness and heart or liver disorders.
CPT deficiency can occur in men, women, and children of all ages.

The disease is caused by an abnormal gene.
CPT 1 deficiency
This type causes problems with the CPT1 enzyme.
The CPT1 enzyme helps force fatty acids inside the cells.
CPT 2 deficiency
This type causes disorders with the CPT2 enzyme.
The CPT2 enzyme helps ensure the body can utilize fatty acids once they are inside the cells.
There are 3 subtypes of CPT2 deficiency:
1. Myopathic form (most frequent)
2. Severe infantile hepatocardiomuscular form
3. Lethal neonatal form
Infants with the lethal infantile form of CPT2 normally die within the first few months of life.
Infants with the severe infantile form often perform somewhat better.
But they also go through severe multi-systemic disease.
The myopathic form causes mild symptoms.

CPT deficiency is produced by an abnormality (mutation) in the CPT gene that causes the formation of an abnormal functioning carnitine palmitoyltransferase enzyme and reduced metabolism of long-chain fatty acids.
CPT deficiency is passed on as an autosomal recessive genetic disorder with a 25% recurrence risk for future children to be affected.
It is caused by a mistake in the code for the CPT gene (mutation) resulting in reduced carnitine palmitoyltransferase enzyme activity stopping normal metabolism of long-chain fatty acids from food and stored fat and reduced energy production.
CPT deficiency can cause:
1. Symptoms of low blood sugar (hypoglycemia)
2. Liver problems, such as an enlarged liver
3. Nervous system damage, from liver problems
4. Coma and sudden death
Symptoms can include muscle pain and weakness.
Genetic Testing can provide the diagnosis
The patient may consult a genetic specialist before the patient have a baby.
A low-fat high carbohydrate diet is the main treatment for CPT deficiency.
Medical treatment is with oral carnitine in primary carnitine deficiency
The patient may need to avoid activities that can trigger symptoms, like skipping meals or exercising a lot.

TABLE OF CONTENT
Introduction
Chapter 1 CPT Deficiency
Chapter 2 Causes
Chapter 3 Sympto

• Language: English
• Publisher: Kenneth Kee
• Release date: Dec 7, 2019
• ISBN: 9780463181027

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

CPT Deficiency,

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 2019 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 CPT Deficiency, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

(What The patient Need to Treat CPT Deficiency)

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 you 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

Carnitine Palmitoyltransferase (CPT) Deficiency

I was watching this show DIAGNOSIS on Netflix which featured a girl named Angel with symptoms included muscle pain, aches and fatigue that developed after exercise.

On numerous hospital visits, she had elevated creatine kinase levels in her blood, which is a sign of muscle breakdown.

She also had dark-colored urine, a finding that indicates either higher red blood cell breakdown (due to pigmentation from a red blood cell oxygen-binding protein called hemoglobin) or higher muscle breakdown (due to a protein related to hemoglobin found only in muscles called myoglobin).

When the body starts to run out of sugar during exercise, it turns to fats for its energy source.

CPT2 is one of the molecules affected in the pathway of transporting fatty acids into energy-producing structures inside the cells called mitochondria.

If CPT2 is not functional, it can cause muscle breakdown as the muscles run out of their energy source.

CPT2 is rare and the diagnosis is finally made by a health team in Turin, Italy