4.3.f

Other disorders of complex molecule degradation

  • Alpha-glucosidase deficiency (Glycogen storage disease type 2; Pompe disease)
  • Lysosome-associated membrane protein 2 deficiency (Danon disease; pseudoglycogenosis type 2)
  • Glucocerebrosidase receptor deficiency (Progressive myoclonic epilepsy type 4; action myoclonus-renal failure syndrome)
  • Niemann-Pick disease type C1
  • Niemann-Pick disease type C2
  • Lysosomal acid lipase deficiency (Wolman disease, severe; cholesteryl ester storage disease, milder)
  • UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency (Mucolipidosis type 2, I-cell disease, severe; mucolipidosis type 3 alpha/beta, pseudo-Hurler polydystrophy, milder)
  • UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma deficiencY (Mucolipidosis type 3 gamma)
  • Mucolipin 1 deficiency (Mucolipidosis type 4)
  • Site-1 protease deficiency
  • Cathepsin K deficiency (Pycnodysostosis)
  • Cathepsin C deficiency (Papillon-Lefevre syndrome; Haim-Munk syndrome)
  • Cathepsin B superactivity

Subnetworks

LSD 1

LSD

Lysosomal storage disorders

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