Summary of Common Lysosomal Storage Diseases (LSDs) Accumulating Product Disease Protein Deficiency (or Defective Process) Gaucher disease Glucocerebrosidase Glucosylceramide Tay-Sachs disease -hexosaminidase, -subunit GM2 ganglioside Sandhoff disease -hexosaminidase, -subunit GM2 ganglioside, oligosaccharides Krabbe disease Galactosylceramidase Gal-ceramide, gal-sphingosine Niemann-Pick disease A,B Sphingomyelinase Sphingomyelin Disorders of Glycoprotein Degradation Aspartylglycosaminuria Aspartylglycosaminidase N-linked oligosaccharides -Mannosidosis -Mannosidase -Mannosides Disorders of Sphingolipid Degradation chapter 2 Disorders of Glycosaminoglycan Degradation Hurler syndrome (mucopolysaccharidosis I, -L-iduronidase Dermatan sulfate, heparan sulfate MPS I) Hunter syndrome (MPS II) L-Iduronate sulfatase Dermatan sulfate, heparan sulfate Maroteaux-Lamy syndrome (MPS IV) GalNAc 4-sulfatase/arylsulfatase B Dermatan sulfate Other Disorders of Single Enzyme Deficiency Pompe disease (glycogenosis II) -1,4-Glucosidase Glycogen Wolman disease (familial xanthomatosis) Acid lipase Cholesterol esters, triglycerides Canavan disease (aspartoacylase Aspartoacylase N-acetylaspartic acid deficiency) Disorders of Lysosomal Biogenesis Inclusion-cell (I-cell) disease, GlcNAc-1-phosphotransferase Lysosomal hydrolyses are not mucolipidosis II (GlcNAcPTase) present in lysosomes Leads to defective sorting of most soluble hydrolytic lysosomal enzymes Disorders of the Lysosomal Membrane Danon disease lamp2 Presence of autophagic vacuoles Cystinosis Cystinosin (cystine transporter) Cystine Summary of Common Lysosomal Storage Diseases (LSDs) (Cont.) Accumulating Product Disease Protein Deficiency (or Defective Process)
Cytoplasmic proteins and organelles are substrates for lysosomal degradation in the process of autophagy.