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Fatty Acid Oxidation, Electron Transfer and Riboflavin Metabolism Defects by Elaine Murphy; Yann Nadjar; Christine Vianey-Saban is a nonfiction available to read on EtoBox.

What is Fatty Acid Oxidation, Electron Transfer and Riboflavin Metabolism Defects about?

The fatty acid oxidation disorders are a group of autosomally recessively inherited disorders of energy metabolism that may present with life-threatening hypoketotic hypoglycemia, encephalopathy and hepatic dysfunction, muscle symptoms, and/or cardiomyopathy. Milder phenotypes may present in adulthood, causing exercise intolerance, episodic rhabdomyolysis, and neuropathy. Specific investigations include acylcarnitine profiling, urine organic acid analysis, fibroblast or leucocyte studies of fatty acid oxidation flux/enzyme activity, and genetic testing. Management varies depending on the condition but includes avoidance of precipitants such as fasting, fever, and intense exercise, a high-carbohydrate, low-fat diet, and supplementation with carnitine or riboflavin. Inborn errors of riboflavin transport mainly present with Brown-Vialetto-Van Laere syndrome. Some patients respond dramatically to riboflavin supplementation; therefore it has to be tried in all suspected patients.

Who reads Fatty Acid Oxidation, Electron Transfer and Riboflavin Metabolism Defects?

Author

Elaine Murphy; Yann Nadjar; Christine Vianey-Saban

Publisher

Oxford University Press

Published

2016

Language

EN

Category

nonfiction