Family of Diseases (Lysosomal Storage Diseases)


MUCOPOLYSACCHARIDE (MPS) STORAGE DISEASES

Disease Name (Alternate Name)

MPS I-H (Hurler syndrome)
MPS I-S (Scheie syndrome) 
MPS I-HS (Hurler-Scheie syndrome) 
MPS II (Hunter syndrome)  
MPS III A, B, C, D (Sanfilippo syndrome A, B, C, D )
MPS IV A, B (Morquio syndrome A, B) 
MPS VI (Maroteaux-Lamy syndrome)
MPS VII (Sly syndrome)
MPS IX (Hyaluronidase Deficiency)

COMPLEX CARBOHYDRATE STORAGE DISEASES

Disease Name (Alternate Name)

MUCOLIPIDOSES (ML)
ML I (Sialidosis) 
ML II (I-Cell Disease) 
ML III (Pseudo-Hurler Polydystrophy) 
ML IV (Berman syndrome)
  
 
OLIGOSACCHARIDOSES
Mannosidosis A & B
Fucosidosis 
Aspartylglycosaminuria (AGU) 
Multiple Sulfatase Deficiency (MSD)

Schindler Disease
Sialuria
Sialic Acid Storage
Galactosialidosis
Cobalamin F Mutation
GSD II (Pompe Disease)

COMPLEX LIPID STORAGE DISEASES

Disease Name (Alternate Name)

GLYCOSPHINGOLIPIDOSES 
GM 1 gangliosidosis (Landing's Disease) 
GM 2 gangliosidosis (Tay-Sach's & Sandhoff''s Disease)
Trihexosylceramidosis (Fabry's Disease) 
Glucosylceramidosis (Gaucher's Disease) 
Sphingomyelinosis (Niemann-Pick's Disease) 
Sulfatidosis (Metachromatic Leukodystrophy - MLD)
Galactosylceramidosis (Krabbe's Disease) 
Lipogranulomatosis (Farber's Disease)

Wolman's Disease
Fucosidosis
Schindler Disease
Multiple Sulfatase Deficiency
Sphingolipid Activator Deficiency
Cholesterol Ester Storage Disease
GM Z Activator Deficiency
Cystinosis