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Contact: Janet Lathrop
University of Massachusetts at Amherst

Metabolic Diseases and their Enzymes

Caption: Babies born with a faulty copy of a single gene that codes for one of several enzymes used in the cell's lysosomes -- recycling machines -- have lysosomal storage disorders of varying severity. The faulty gene means the enzymes fail to clean up used, toxic molecules or substrate. When these enzymes underperform or fail, patients can have serious metabolic problems.

Credit: courtesy of Scott Garman, UMass Amherst

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Related news release: UMass Amherst biochemists open path to molecular 'chaperone' therapy for metabolic disease

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