Carnitine palmitoyltransferase II deficiency (CPT-II) is a metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source.
The adult myopathic form of this disease was first characterized in 1973 by DiMauro and DiMauro. It is the most common inherited disorder of lipid metabolism affecting the skeletal muscle of adults. CPT II deficiency is also the most frequent cause of hereditary myoglobinuria. Symptoms of this disease are commonly provoked by prolonged exercise or periods without food.
Read more about Carnitine Palmitoyltransferase II Deficiency: Overview, Clinical Presentation, Diagnosis, Treatment, Molecular Genetics, Related Clinical Trials
Famous quotes containing the word deficiency:
“It is easier to discover a deficiency in individuals, in states, and in Providence, than to see their real import and value.”
—Georg Wilhelm Friedrich Hegel (1770–1831)