Information about related lysosomal storage diseases
Here is a comprehensive list of lysosomal storage disorders (LSDs), categorized by the type of enzyme deficiency or storage material involved.
LSD's
Mucopolysaccharidoses
Mucopolysaccharidoses (MPS)
LSDs caused by the accumulation of glycosaminoglycans (GAGs):
- MPS I (Hurler, Hurler-Scheie, Scheie Syndromes)
- MPS II (Hunter Syndrome)
- MPS III (Sanfilippo Syndrome: Types A, B, C, D)
- MPS IV (Morquio Syndrome: Types A and B)
- MPS VI (Maroteaux-Lamy Syndrome)
- MPS VII (Sly Syndrome)
- MPS IX (Natowicz Syndrome)
Sphingolipidoses
Sphingolipidoses
Disorders caused by the accumulation of sphingolipids:
- Gaucher Disease (Types 1, 2, and 3)
- Fabry Disease
- Niemann-Pick Disease (Types A, B, C1, and C2)
- Tay-Sachs Disease
- Sandhoff Disease
- Krabbe Disease (Globoid Cell Leukodystrophy)
- Metachromatic Leukodystrophy (MLD)
- Farber Disease
Glycogen Storage Disorders
Glycogen Storage Disorders (Lysosomal Subtypes)
Disorders caused by the accumulation of glycogen:
- Pompe Disease (Glycogen Storage Disease Type II)
Lipidoses
Lipidoses
Disorders caused by lipid accumulation:
- Wolman Disease
- Cholesteryl Ester Storage Disease
Oligosaccharidoses
Oligosaccharidoses
Disorders caused by the accumulation of oligosaccharides:
- α-Mannosidosis
- β-Mannosidosis
- Fucosidosis
- Aspartylglucosaminuria
- Schindler Disease
Glycoproteinoses
Glycoproteinoses
Disorders caused by the accumulation of glycoproteins:
- Sialidosis (Types I and II)
- Galactosialidosis
- Mucolipidosis (Types II and III, formerly I-cell Disease and Pseudo-Hurler Polydystrophy)
Ceroid Lipofuscinoses
Ceroid Lipofuscinoses (Batten Disease)
Disorders caused by the accumulation of ceroid lipofuscin:
- Neuronal Ceroid Lipofuscinoses (NCL): Multiple subtypes based on gene mutation (e.g., CLN1 to CLN14)
Cholesterol Storage Disorders
Cholesterol Storage Disorders
Disorders involving cholesterol metabolism:
- Niemann-Pick Disease Type C
- Wolman Disease
Peroxisomal Disorders
Peroxisomal Disorders (Sometimes Classified Under LSDs)
Though technically not LSDs, some overlap in presentation:
- Zellweger Syndrome
- Adrenoleukodystrophy (ALD)
Other Lysosomal Storage Disorders
Other Lysosomal Storage Disorders
- Multiple Sulfatase Deficiency
- Danon Disease
- Cystinosis
- Sialic Acid Storage Disease (e.g., Salla Disease)
Notes:
These disorders vary widely in severity, symptoms, and the age of onset, but they all result from defects in lysosomal enzymes, transporters, or associated proteins.
