4.03

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.

4.03.a

Disorders of sphingolipid degradation

This section covers rare inherited disorders of sphingolipid degradation, including…
4.03.b

Disorders of glycosaminoglycan degradation

This section covers rare inherited disorders of glycosaminoglycan degradation, the…
4.03.c

Disorders of glycoprotein degradation

This section covers rare inherited disorders of glycoprotein degradation, including…
4.03.d

Neuronal ceroid lipofuscinosis

This section covers the neuronal ceroid lipofuscinoses (CLN1 to CLN14),…
4.03.e

Disorders of autophagy

This section covers rare inherited disorders of autophagy, including EPG5-related…
4.03.f

Other disorders of complex molecule degradation

This section covers other rare inherited disorders of complex molecule…

Subnetworks

LSD 1

LSD

Lysosomal storage disorders

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