Disorders of Glycosphingolipid and
Glycoprotein Metabolism


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)


back to Inborn Errors Page


Return to The Mobile Medical Biochemistry Page


Michael W. King, Ph.D / IU School of Medicine / miking at iupui.edu


Last modified: August 11, 2009