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Lipid-metabolism-disorder Journals

Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of these disorders, you may not have enough enzymes to break down lipids Disorders that affect lipid metabolism may be caused by defects in the structural proteins of lipoprotein particles, in the cell receptors that recognize the various types of lipoproteins, or in the enzymes that break down fats. Some people have lipid disorders caused by another disease or medical condition, called secondary lipid disorders, including: Diabetes, Hypothyroidism. Obstructive liver disease, and. Kidney failure. Disorders of lipid metabolism can present with a profound enzyme deficiency, resulting in severe early onset multisystemic disease. Typically, episodes of hypoketotic hypoglycemia and liver failure (Reye-like disease) occur. These children present with encephalopathy leading to lethargy and coma, muscle weakness, and cardiac arrhythmias. Milder phenotypes are restricted to muscle with onset not only in childhood, but also in adulthood. These show higher residual enzyme activities in regard to muscle involvement. Two clinical presentations can be distinguished. Some manifest with recurrent attacks of rhabdomyolysis triggered by long-lasting exercise, fasting, infections, or cold. Other disorders present with permanent muscle weakness. 

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