Disorders of Glycosphingolipid and Glycoprotein Metabolism

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Glycolipid Degradation Defects (Sphingolipidoses)

GM1 Gangliosidoses


The GM2 Gangliosidoses

Tay-Sachs Disease

GM2 Activator Deficiency

Sandhoff Disease


Gaucher Disease

Niemann-Pick Diseases

Fabry Disease

Farber lipogranulomatosis

Krabbe Disease

Multiple Sulfatase Deficiency - Austin Disease

Metachromatic Leukodystrophy - Sulfatide Lipodosis


Glycoprotein Degradation Defects (Oligosaccharidoses)

Fucosidosis

α-Mannosidosis

β-Mannosidosis

Aspartylglucosaminuria

Mucolipodosis VI - Sialolipidosis

Galactosialidosis - Goldberg Syndrome


Mucolipidoses: Lysosomal Enzyme Transport Defects

Sialidosis = Mucolipidosis I (MLI)

I-Cell Disease = Mucolipodosis II MLII)

Pseudo-Hurler polydystrophy = Mucolipodosis III (MLIII)


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Last modified: October 27, 2011