4.3

Disorders of complex molecule degradation

This group comprises those who are generally known as lysosomal disorders, which include deficiencies in the degradation of sphingolipids, glycosaminoglycans, glycoproteins, as well as disorders of neuronal ceroid lipofuscinosis and disorders of autophagy. The most common and known conditions belonging to this group are Gaucher disease, Nieman-Pick A and B, Fabry disease, GM2 gangliosidosis and mucopolysaccharidosis.

4.3.a

Disorders of sphingolipid degradation

Glucocerebrosidase deficiency (Gaucher disease) Atypical Gaucher disease due to saposin…
4.3.b

Disorders of glycosaminoglycan degradation

Alpha-iduronidase deficiency (Mucopolysaccharidosis type 1H, Hurler syndrome, severe; mucopolysaccharidosis type…
4.3.c

Disorders of glycoprotein degradation

Alpha-neuraminidase deficiency (Sialidosis) Cathepsin A deficiency (Galactosialidosis) Alpha-mannosidase deficiency (α-mannosidosis)…
4.3.d

Neuronal ceroid lipofuscinosis

Palmitoyl-protein thioesterase 1 deficiency (CLN1 disease; Santavuori-Haltia disease) Tripeptidyl-peptidase 1…
4.3.e

Disorders of autophagy

EPG5 deficiency Vici syndrome WDR45 deficiency (Neurodegeneration with brain iron…
4.3.f

Other disorders of complex molecule degradation

Alpha-glucosidase deficiency (Glycogen storage disease type 2; Pompe disease) Lysosome-associated…

Subnetworks

LSD 1

LSD

Lysosomal storage disorders

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