Kenneth Kee

Fatty Acid Oxidation Disorders, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions (eBook, ePUB)

• Format: ePub

Produktbeschreibung

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 Chap...

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Produktdetails

• Verlag: Kenneth Kee
• Erscheinungstermin: 10. Dezember 2019
• Englisch
• ISBN-13: 9780463839997
• Artikelnr.: 75904527

Autorenporträt

Dr. Kenneth Kee is a well-known medical doctor from Singapore who has been practicing medicine since 1972.
He graduated from the University of Singapore and furthered his studies with a Master of Science in Health Management in 1991, followed by a Ph.D. in Healthcare Administration in 1993.
Dr. Kee established Kee Clinic in 1974, located in the Holland Drive area of Singapore. The clinic has been a prominent feature of the community, offering general medical services for 5 decades.
Dr Kee also served his country Singapore as a national service police Inspector at night from 1975 to 1985 while working at his clinic during the day.
He had served as a police guard to the Woodland Petroleum Tanks at night during the Indonesian Confrontation period, took part in police rounds at night in the Beach Road area and taught First aid and emergency resuscitation to Police recruits.
He received the Singapore Police Bicentennial 2020 Medallion on 1st March 2024 as recognition for his work in the Singapore Police.
Even as he grew older, Dr. Kee continued to work actively in his clinic, although he eventually reduced his consultation hours.
Beyond his medical career, Dr. Kee is also an author.
He started writing about medical conditions in 2007, using blogs and other online platforms to share his knowledge with a broader audience.
Over time, he published various books, many of which provide simple and accessible guides to different health conditions.
His works include "A Family Doctor's Tale," "My Personal Singapore History," and numerous medical guides, available through platforms like Amazon.
His books often combine his personal experiences as a family doctor with insights into Singapore's healthcare system and history.
Dr. Kee has written extensively on health topics, contributing to both medical literature and general knowledge resources.

Dr. Kenneth Kee has written numerous books, primarily focused on health education and personal experiences as a family doctor. Some of his notable titles include:
"A Family Doctor's Tale"
This book is a blend of Dr. Kee's personal experiences and his reflections on being a family doctor in Singapore. It's a great choice if you're looking for a narrative that combines both medical knowledge and human stories.
"Specialized Medical Conditions"
Books like **"Congestive Heart Failure: Diagnosis and Treatment"** focus on specific conditions, offering in-dept...