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Muscular carnitine palmitoyltransferase II deficiency in infancy

โœ Scribed by Haggit Hurvitz; Aharon Klar; Isabelle Korn-Lubetzki; Ron J.A Wanders; Orly N Elpeleg


Book ID
117592176
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
41 KB
Volume
22
Category
Article
ISSN
0887-8994

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Carnitine palmitoyltransferase (CPT) was studied in muscle homogenates of four patients with recurrent attacks of rhabdomyolysis due to muscular CPT deficiency and in those of the clinically asymptomatic father and mother of two patients. In controls CPT II was readily solubilized by the addition of

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The most common form of carnitine palmitoyltransferase II (CPT II) deficiency occurs in adults and is characterized by muscle pain, stiffness, and myoglobinuria, triggered by exercise, fasting, or other metabolic stress. This study reports the molecular heterogeneity of CPT2 mutations and their bioc

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Carnitine palmitoyltransferase II (CPT II) deficiency is the most common lipid myopathy in adults and is characterized by exerciseinduced pain, stiffness, and myoglobinuria. Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease-causing mu