Journal of Cell Biology and Metabolism

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Lipid Metabolism

Disorder: Disorders of lipid metabolism is caused due to profound enzyme deficiency, resulting in severe early onset multi systemic disease. Typically, it results in hypoglycaemia and liver failure (Reye-like disease) occurs. This leads to encephalopathy and coma, muscle weakness, and cardiac arrhythmias. Milder phenotypes are restricted to muscle with onset not only in childhood, but in adulthood, this shows higher residual enzyme activities in muscle involvement. Two clinical presentations can be distinguished which manifest with recurrent attacks of rhabdomyolysis triggered by long-lasting exercise, fasting, infections, or cold. Other disorders present with permanent muscle weakness. Recurrent attacks of rhabdomyolysis occur in CPT II deficiency.

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