Lysosome storage disease

What is lysosomal storage disease ?

Lysosomal storage diseases  are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. 

Lysosomal disorders are triggered when a particular enzyme exists in too small an amount or is missing altogether. 

This enzyme is required for the metabolism of lips,proteases,nucleses and polysaccharides. When this happens, substances accumulate in the cell. In other words, when the lysosome doesn’t function normally, excess products destined for breakdown and recycling are stored in the cell.

Lysosomal storage diseases affect mostly children and they often die at a young and unpredictable age, many within a few months or years of birth.




Since lysosomal storage disease is a huge category what are the some examples of these diseases ?



Alternatively to the protein targets, lysosomal storage diseases may be classified by the type of protein that is deficient and is causing buildup. 

Type of defect protein	Disease examples	Deficient protein
Lysosomal enzymes primarily	Tay-Sachs disease, I-cell disease,[6] Sphingolipidoses (e.g., gangliosidosis, Gaucher and Niemann-Pick disease)	Various
Posttranslational modification of enzymes	Multiple sulfatase deficiency	Multiple sulfatases
Membrane transport proteins	Mucolipidosis type II and IIIA	N-acetylglucosamine-1-phosphate transferase
Enzyme protecting proteins	Galactosialidosis	Cathepsin A
Soluble nonenzymatic proteins	GM2-AP deficiency, variant AB, Niemann-Pick disease, type C2	GM2-AP, NPC2
Transmembrane proteins	SAP deficiency	Sphingolipid activator proteins
	Niemann-Pick disease, type C1	NPC1
	Salla disease	Sialin