What's in Genetic Mistakes?


I know my book, Genetic Mistakes – Understanding and Living with Fatty Acid Oxidation Disorders has recently been discussed on the FOD support page. It has also been mentioned in other groups. I want to tell you about it in more detail, so you can decide if it is worth it for you.

I purposely kept it relatively short for a book on such a complicated topic. It is under 200 pages, even with the index. I did this because the topic can be overwhelming, and I wanted to isolate the most important pieces of information I know patients and parents look for. I have defined the words and terms I felt were unavoidable or that you might run up against in looking at test results and such.

I have broken down the general information into three parts, the first of which is devoted to understanding these disorders. These are the Chapters and sub-heads:In Chapter 1 Metabolic and Fatty Acid Oxidation Disorders: What are Metabolic Disorders? What are Fatty Acid Oxidation Disorders? Thinking About Fats in a New Way.

In Chapter 2 Genetics of Fatty Acid Oxidation Disorders: Understanding Basic Genetics. Understanding the Autosomal Recessive Inheritance Pattern. Understanding Fatty Acid Metabolism. Understanding Carbon Chains. How the Genotype is Determined. Understanding the Spectrum of Severity and Contributing Factors. Is It Reye’s Syndrome or Is It an FAOD? Understanding the Role of the Liver in FAODs. Understanding the Potential Effect of FAODs on Other Organs. Understanding the Potential Danger to the Pregnant Mother of an FAOD Fetus. Understanding the Role of Carnitine in FAODs. Considering Other Treatments for FAODs. Understanding the Danger of Fat Accumulation. Understanding Symptomatic Carriers. When Symptoms Are Not FAOD-Related.

Chapter 3 Sudden Infant Death Syndrome (SIDS) or “Crib Death” and the Newborn Screen (NBS)

Chapter 4 FAODs in General

Chapter 5 Disorders of Transport/Carnitine Cycle Defects: Contains tables and short narratives for each of these known FAODs – Carnitine Uptake Defect (CUD), Carnitine-Acylcarnitine Translocase Deficiency (CACT), Carnitine Palmitoyltransferase I Deficiency (CPTI), and Carnitine Palmitoyltranferase II Deficiency (CPTII).

Chapter 6 Beta-Oxidation Disorders: Contains tables and short narratives for the FAODs that concern the action inside the mitochondria: Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD), Trifunctional Protein Deficiency (TFP), Very-Long-Chain Ayl-CoA Dehydrogenase Deficiency (VLCAD), ACAD9 Deficiency, Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD), Short-Chain Acyl-CoA Dehydrogenase (SCAD), Medium/Short-Chain 3 Hydroxyacyl CoA Dehydrogenase (M/SCHAD), Medium-Chain 3 Ketoacyl-CoA Thiolase (MCAT), 2,4-Dienoyl-CoA Reductase Defiiency (DE RED)

Chapter 7 Disorders of Electron Transfer/Mitochondrial Respiratory Chain and Unspecified FAODs: a table for Glutaric Acidemia II (GAII) and narratives

Part II of the book is on living with these disorders and contains some revealing family stories. It covers the birth experience, finding out something is wrong, wondering if your child will survive, getting the diagnosis, finding a way forward, how to educate others on FAODs, facing family planning, complicating factors, and treatments that are currently being tested.

Both these sections are heavily cited and the third section includes the full reference used for each. There are 13 pages of these references. I did this so that you and your doctors could have confidence in this work. I wanted to publish with a traditional science publisher for the same reason, knowing that a self-published work would be given less credence. A small disclaimer here. This also means that despite the high cost of this book, I make nothing for years, if ever. I paid for the illustrations, cover, and some of the research out of my own pocket. I knew this going in and did it anyway so that the book would be available. However, now that I have succeeded in doing this, I am working on a book on MCAD specifically. As I mentioned, I kept the first book short, which necessitated what I feel are inadequate passages on the more common disorders. I hope to get this book out by March and to follow it with another on CPTI and II. If I live long enough, I will also write one on VLCAD. I intend to self-publish these books so that I can control their prices.

Part III of Genetic Mistakes is a brief look at resources as well as my references and a full index.

I hope this expanded summary helps you decide if this book is for you. I know as I faced this in my own family, I had questions no one could answer. I am not a doctor and do not intend anyone to use this book in place of medical care. It does not suggest alternative treatments, nor does it give diet advice. It merely tries to explain what FAODs are, how they affect the body and the family, and hopefully gives readers confidence that they can handle this experience. Having said that, I am a science writer and my co-author, my daughter, is a scientist. We prepared this book with great care, keeping in mind that it would be read by families in crisis. I hope you find it helpful. If you cannot afford it, please see my readings on my FaceBook books page or better yet, request a copy from your library. It is published by Nova Science Publishers and its ISBN # is 978-1-53612-244-2.

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