Fatty Acid Oxidation Disorders, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
By Kenneth Kee
()
About this ebook
This book describes Fatty Acid Oxidation Disorders, Diagnosis and Treatment and Related Diseases
Fatty acid oxidation disorders (FODs) are a cluster of genetic metabolic disorders that are featured by the abnormal breakdown of fatty acids to energy in the body.
This process needs fat and oxygen, and is termed fatty acid oxidation.
It is the same as burning fuel in a fireplace but instead of heat, the body forms chemical energy by this method of fat burning.
Due to the inherited mutation or FOD, affected persons cannot burn fats successfully for energy production.
Storage fat is the second energy supply for the body (the first is glucose or sugar).
When the glucose is used up, the body breaks down storage fat for energy.
Any inability to metabolize fatty acids absolutely due to an inherited blockage in the energy production pathway leads to the collection of the unused fat by-products toxic to the body.
A number of enzymes are required to break down fats in the body (a process called fatty acid oxidation).
Problems with any of these enzymes can produce a fatty acid oxidation disorder.
People with FODs cannot properly break down fat from either the food they eat or from fat stored in their bodies.
The FODs comprise many different disorders such as:
1. Disorders of plasma membrane functions
Carnitine uptake defect
Long chain fatty acid transport/binding defect
2. Disorders of fatty acid transport across the mitochondrial membranes
Primary carnitine deficiency CPT syndromes
CPT1 and 2 deficiencies
CACT deficiency
3. Disorders of long chain fatty acid β-oxidation:
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency,
Tri-functional protein deficiency, isolated long-chain L3-hydroxyl-CoA dehydrogenase deficiency,
4. Disorders of Medium chain fatty acid β-oxidation:
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency,
Medium- and short-chain L3-hydroxyl-CoA dehydrogenase deficiency
Medium-chain 3-ketoacyl-CoA thiolase deficiency
5. Disorders of short chain fatty acid β-oxidation:
Short chain acyl-CoA dehydrogenase (SCAD) deficiency
Fatty acids indicates an important source of energy in periods of catabolic stress linked to increased muscular activity, fasting or febrile illness, where as much as 80% of the energy for the heart, skeletal muscles and liver could be obtained from them
The symptoms of FODs are linked to the poor energy production and the effects of the toxic buildup of waste products and, depending on the medical needs for energy, can fluctuate widely even among members of the same family.
There may be a range of medical manifestations ranging from:
1. Mild liver dysfunction,
2. Cardiomyopathy and
3. Skeletal myopathy to
4. Severe liver disease that may present with a recurrent Reye-like syndrome starting in the infantile period with hepatic steatosis,
5. Unexplained hepatic failure and
6. Non-ketotic hypoglycemia.
Stressors such as fasting may exacerbate the hepatic disease.
Episodes of hypoglycemia can happen with or without other symptoms.
Hypoglycemia can induce a child to feel weak, shaky or giddy with cold clammy skin.
If not treated, it can lead to coma, and possibly death.
The main laboratory studies are routine labs (CBC, BMP, hepatic panel, ammonia, lactate and CPK), acylcarnitine levels, MS/MS analysis of organic acids, plasma carnitine, acylcarnitines and urine acylglycine analysis, with a definitive diagnosis based on mutation analysis or measurement of specific enzyme activity.
A low fat, high carbohydrate diet is recommended.
Dietary fat restriction is not indicated in MCAD deficiency and mild long-chain FODs recently identified by newborn screening.
New treatments are:
UX007
REN001
bezafibrate
TABLE OF CONTENT
Introduction
Chapter 1 Fatty Acid Oxidation Disorders
Chapter 2 Causes
Chapter 3 S
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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Fatty Acid Oxidation Disorders, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions - Kenneth Kee
Fatty Acid Oxidation Disorders,
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 Fatty Acid Oxidation Disorders, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.
(What You Need to Treat Fatty Acid Oxidation Disorders)
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.
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
Fatty acid oxidation disorders
What are Fatty acid oxidation disorders?
Fatty acid oxidation disorders (FODs) are a cluster of genetic metabolic disorders that are featured by the abnormal breakdown of fatty acids to energy in the body.
This process needs fat and oxygen, and is termed fatty