Fast Facts: Long-Chain Fatty Acid Oxidation Disorders

Understand, Identify and Support

Barbara K. Burton, Anne Daly (Autoren)

Buch | Softcover

48 Seiten

2021
Karger, S (Verlag)
978-3-318-06830-6 (ISBN)

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Disorders affecting the oxidation of long-chain fatty acids are complex, 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 prevent long-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 all health 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

Erscheinungsdatum	28.04.2021
Zusatzinfo	9 fig., 9 in color, 6 tab.
Verlagsort	Basel
Sprache	englisch
Maße	148 x 210 mm
Gewicht	90 g
Themenwelt	Medizinische Fachgebiete ► Innere Medizin ► Endokrinologie
Themenwelt	Studium ► 1. Studienabschnitt (Vorklinik) ► Biochemie / Molekularbiologie
Schlagworte	Metabolism
ISBN-10	3-318-06830-6 / 3318068306
ISBN-13	978-3-318-06830-6 / 9783318068306
Zustand	Neuware