Primary carnitine deficiency in two sisters with intractable epilepsy and reversible metabolic cardiomyopathy: Two case reports

Abstract excerpt

Primary carnitine deficiency (PCD) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. When carnitine cannot be transported into the cells, fatty acid oxidation is impaired, resulting a variety of symptoms, such as chronic muscle weakness, cardiomyopathy, hypoglycemia and liver dysfunction. The clinical manifestations and outcomes of different cases with PCD vary among patients....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Infectious Encephalopathies and Encephalitis
• Share to Metabolism and Genetic Disorders
• Share to Mitochondrial Function and Pathology