Biochemical and physiologic consequences of carnitine palmityltransferase deficiency
β Scribed by Dr. James E. Carroll; Michael H. Brooke; Darryl C. DeVivo; Kenneth K. Kaiser; James M. Hagberg
- Book ID
- 102954833
- Publisher
- John Wiley and Sons
- Year
- 1978
- Tongue
- English
- Weight
- 706 KB
- Volume
- 1
- Category
- Article
- ISSN
- 0148-639X
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A patient is described who was admitted with a condition similar to the Reye syndrome at the age of 9 months. Hypoglycemia, hyperammonemia, hepatomegaly, and lethargy were present. The plasma concentrations of free and acylcarnitine were extremely low and the urine contained excessive amounts of dic
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