A lysosomal transport defect; cysteamine depletes intracellular cystine and slows organ damage.
A lysosomal enzyme deficiency spanning a clinical spectrum; enzyme replacement is available.
The most common lysosomal storage disorder, caused by glucocerebrosidase deficiency; enzyme replacement and substrate reduction therapies are available.
An X-linked lysosomal storage disorder from alpha-galactosidase A deficiency; enzyme replacement and oral chaperone therapy are available.
A lysosomal glycogen storage disorder from acid alpha-glucosidase deficiency; enzyme replacement therapy improves survival and function.
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