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Acid lipase disease
- Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). ...
- ... in the PNPLA2 gene cause neutral lipid storage disease with myopathy. The ... molecules called fatty acids before they can be used for energy.PNPLA2 ...
- ... turns on (activates) an enzyme called adipose triglyceride lipase (ATGL). This enzyme breaks ... Chanarin-Dorfman disease DCS Dorfman-Chanarin disease Dorfman-Chanarin syndrome Ichthyosiform ...