Muscular carnitine palmitoyltransferase II deficiency in infancy
โ 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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๐ SIMILAR VOLUMES
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
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
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