Fast Facts: Long-Chain Fatty Acid Oxidation Disorders

By B.K. Burton

Disorders affecting the oxidation of long-chain fatty acids arecomplex, potentially life-threatening, metabolic conditions. A number of genetically distinct conditions exist, depending on the gene and protein affected, but there are some common clinical and biochemical features.Newborn screening, which allows early intervention to preventlong-term morbidity, is not universally available. Even with screening, it is important that health professionals recognize the symptoms that may manifest at different stages of life.This concise guide to these rare conditions will be of value to allhealth professionals who may encounter or care for an individual with a long-chain fatty acid oxidation disorder. As well as explaining the underlying defects, inheritance and how the conditions manifest, the book describes the diagnosis and differential diagnosis of the disorders. The final chapter gives some guidance on genetic counseling and supporting patients. Table of Contents: * Fatty acid metabolism * Epidemiology and genetics * Clinical presentation * Diagnosis * Genetic counseling, newborn screening and patient support

• Format: Paperback
• Language: English
• ISBN: 3318068306
• ISBN13: 9783318068306
• Release Date: April 2021
• Publisher: S. Karger Publishing
• Length: 48 Pages
• Weight: 0.20 lbs.
• Dimensions: 0.1" x 7.4" x 6.1"