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Lysosomal Disorders

Disease Deficient enzyme or activator Sphingolipidoses      Metachromatic leukodystrophy (MLD) Arylsulfatase A (sulfatidase)    MLD variant Sulfatide activator    Krabbe (globoid cell leukodystrophy) Galactosylceramidase    GM1 gangliosidosis β-Galactosidase    Tay-Sachs β-Hexosaminadase α-subunit    Sandhoff β-Hexosaminadase β-subunit    GM2 gangliosidosis AB variant GM2 activator    Fabry α-Galactosidase A    Niemann-Pick, types A and B Sphingomyelinase    Gaucher Glucosylceramidase    Gaucher variant β-Glucosidase activator (SAP-2)    Farber (lipogranulomatosis) Ceramidase    Galactosialidosis Protective protein/cathepsin A Mucopolysaccharidoses (MPSs)      Hurler-Scheie syndrome (MPS I and V) α-Iduronidase    Hunter syndrome (MPS II) α-Iduronidate sulfatase    Sanfilippo disease (MPS III)         Type A Heparan N-sulfatase       Type B N-Acetyl α-glucosaminidase       Type C N-Acetyl CoA:α-glucosaminide N-Acetyl transferase       Type D N-Acetyl α-glucosaminide-6-sulfatase    Morquio disease (MPS IV)         Type A N-Acetyl galactosamine-6-sulfatase       Type B β-Galactosidase    Maroteaux-Lamy (MPS VI) Arylsulfatase B    β-Glucuronidase deficiency (MPS VII) β-Glucuronidase Glycoprotein storage disease and mucolipidoses      Sialidosis (mucolipidosis I) α-Neuraminidase (sialidase)    α-Mannosidosis α-Mannosidase    β-Mannosidosis β-Mannosidase    α-Fucosidosis α-Fucosidase    Mucolipidosis IV Mucolipin-1    I-cell disease and pseudo-Hurler UDP-glcNAc:lysosomal enzyme glcNAc    Polydystrophy (mucolipidoses II and III) Phosphotransferase