Lysosomal storage disease
Lysosomal storage disease
Definition
A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
Also known as disorder of lysosomal enzymes, lysosomal disease, lysosomal disorder, lysosomal storage disorder, lysosome disease, lysosome disorder — per MONDO