Lysosomal Storage Disorders

Comprehensive information on various types of LSDs, their symptoms, diagnosis, and treatments.

Alpha-Mannosidosis

Also known as: Alpha-D-mannosidase deficiency, Mannosidosis

Aspartylglucosaminuria

Also known as: AGA deficiency, AGU, Aspartylglucos-amidas (AGA) deficiency, Aspartylglucos-aminuria, Aspartylglycosaminuria, Glycoasparaginase, Glycosylasparaginase deficiency

Beta-Mannosidosis

Also known as: Beta-D-mannosidosis, Lysosomal Beta-A-mannosidosis, Lysosomal Beta-mannosidosis deficiency

COG Complex Deficiency

Also known as: CDG, Congenital Disorders of Glycosylation

Cystinosis

Also known as: Cystine storage disease, Infantile Nephropathic Cystinosis, Nephropathic Juvenile Cystinosis, Intermediate Cystinosis, Non-Nephropathic Cystinosis, Ocular Cystinosis

Danon Disease

Also known as: Antopol disease, Glycogen storage disease type 2B, Lysosomal glycogen storage disease with normal acid maltase, Pseudoglycogenosis II, Vacuolar cardiomyopathy and myopathy, X-linked

Fabry Disease

Also known as: Alpha-galactosidase A deficiency, Anderson-Fabry disease, Angiokeratoma corporis diffusum, Angiokeratoma diffuse, Ceramide trihexosidase deficiency, Fabry’s disease, GLA deficiency, Hereditary dystopic lipidosis, FD

Farber Disease

Also known as: Farber lipogranulomatosis, Acid ceramidase deficiency, ASAH1-related disorder

Fucosidosis

Also known as: Alpha-L-fucosidase deficiency

Galactosialidosis

Also known as: deficiency of cathepsin A, Goldberg syndrome, lysosomal protective protein deficiency, neuraminidase deficiency with beta-galactosidase deficiency, PPCA deficiency

Gaucher Disease

Also known as: Glucocerebrosidase deficiency

GM1 Gangliosidosis

Also known as: beta-galactosidase deficiency, GLB1-related gangliosidosis

Krabbe Disease

Also known as: GALC deficiency, Galactocerebrosidase deficiency, Galactosylceramidase deficiency, Globoid Cell Leukodystrophy

Metachromatic Leukodystrophy (MLD)

Also known as: MLD, Arylsulfatase A deficiency

MPS (Mucopolysaccharidoses - General)

Also known as: Mucopolysaccharidoses, MPS disorder

MPS I (Mucopolysaccharidosis Type I)

Also known as: Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome

MPS II (Mucopolysaccharidosis Type II / Hunter Syndrome)

Also known as: Hunter syndrome

MPS IIIB (Sanfilippo B Disease)

Also known as: Mucopolysaccharidosis type IIIB, Mucopoly-saccharidosis type 3B, Sanfilippo syndrome B, N-acetyl-alpha-d-glucosaminidase deficiency, MPS IIIB, MPS 3B

MPS IIIC (Sanfilippo C Disease)

Also known as: Mucopolysaccharidosis type IIIC, Mucopoly-saccharidosis type 3C, Sanfilippo syndrome C, Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency, MPS IIIC, MPS 3C, HGSNAT deficiency, MPS3C, MPSIIIC, Mucopolysaccharidosis type 3C, Heparan-alpha-glucosaminide N-acetyltransferase deficiency, Sanfilippo syndrome type C

MPS IIID (Sanfilippo D Disease)

Also known as: Mucopoly-saccharidosis type 3D, Sanfilippo syndrome D, N-acetylglucosamine-6-sulfate sulfatase deficiency, MPS IIID, MPS 3D, Glucosamine N-acetyl-6-sulfatase deficiency, GNS deficiency, MPS3D, MPSIIID, Mucopolysaccharidosis type 3D, Sanfilippo syndrome type D

MPS IVA (Morquio A Disease)

Also known as: Morquio-Brailsford A disease, Morquio A Disease, Morquio A Syndrome, Morquio’s A Disease, Morquio’s A Syndrome, MPS IVA, mucopolysaccharidosis (MPS) IVA

MPS IVB (Morquio B Disease)

Also known as: Morquio-Brailsford B disease, Morquio B Disease, Morquio B Syndrome, Morquio’s B Disease, Morquio’s B Syndrome, MPS IVB, mucopolysaccharidosis (MPS) IVB

MPS IX (Natowicz Syndrome)

Also known as: Mucopolysaccharidosis IX, Natowicz syndrome, Hyaluronidase deficiency

MPS VI (Maroteaux-Lamy Disease)

Also known as: Arylsulfatase B deficiency, Maroteaux-Lamy Syndrome, MPS VI, MPS6, Mucopolysaccharidosis 6, Mucopolysaccharidosis VI, Polydystrophic Dwarfism

MPS VII (Sly Disease)

Also known as: beta-glucuronidase deficiency, GUSB deficiency, MPS VII, MPS disorder, type VII, MPS7, Mucopolysaccharidosis 7, Mucopolysaccharidosis VII, Sly Syndrome

Mucolipidosis IV

Also known as: Ganglioside Sialidase Deficiency, ML4, MLIV, Sialolipidosis

Niemann-Pick Disease Type A

Also known as: Acid Sphingomyelinase Deficiency (ASMD type A), Lipid histiocytosis, Neuronal cholesterol lipidosis, Neuronal lipidosis, NPD, Sphingomyelin lipidosis, Sphingomyelin/cholesterol lipidosis, Sphingomyelinase deficiency

Pompe Disease

Also known as: Glycogen Storage Disease Type II, Acid Maltase Deficiency Disease

Prosaposin Deficiency

Also known as: Combined prosaposin deficiency

Pycnodysostosis

Also known as: Pyknodysostosis, PKND, PYCD

Sandhoff Disease

Also known as: GM2 Gangliosidosis Type 2

Schindler Disease

Also known as: alpha-galactosidase B deficiency, alpha-galNAc deficiency, Schindler type, alpha-N-acetylgalactosaminidase deficiency, alpha-NAGA deficiency, angiokeratoma corporis diffusum-glycopeptiduria, GALB deficiency, Kanzaki disease, lysosomal glyco-amino-acid storage disease-angiokeratoma corporis diffusum, NAGA deficiency, neuroaxonal dystrophy, Schindler type, neuronal axonal dystrophy, Schindler type

Sialidosis

Also known as: cherry red spot myoclonus syndrome, mucolipidosis I, mucolipidosis type I, myoclonus cherry red spot syndrome, alpha-neuraminidase deficiency, glycoprotein neuraminidase, deficiency of lipomucopolysaccharidosis type I, ML I, neuraminidase deficiency, sialidase deficiency

Tay-Sachs Disease

Also known as: Hexosaminidase A deficiency, GM2 gangliosidosis

Wolman Disease (Lysosomal Acid Lipase Deficiency)

Also known as: Lysosomal acid lipase deficiency, LAL-D