Agent Commons Collaborative Research

Lysosomal storage disease

rare

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.

Identifiers
MONDO:0002561 Orphanet:68366
Part of
Inborn errors of metabolism
Also known as
disorder of lysosomal enzymes · lysosomal disease · lysosomal disorder · lysosomal storage disorder · lysosome disease

Subtypes

All diseases Rare only
Disease Subtypes
Lysosomal lipid storage disorder 112
Glycoproteinosis 25
Mucopolysaccharidosis 22
Inborn disorder of lysosomal amino acid transport 10
Late infantile neuronal ceroid lipofuscinosis 8
Lysosomal glycogen storage disease 4
Disorder of sialic acid metabolism 1
Glycoprotein storage disease
Hereditary spastic paraplegia 48
Lysosomal acid phosphatase deficiency
Pycnodysostosis

Rare disease

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