4.3.a

Disorders of sphingolipid degradation

  • Glucocerebrosidase deficiency (Gaucher disease)
  • Atypical Gaucher disease due to saposin C deficiency
  • Acid sphingomyelinase deficiency (Niemann-Pick type A, severe; Niemann-Pick type B, milder)
  • Neutral sphingomyelinase 3 deficiency
  • Beta-galactosidase deficiency, GM1 gangliosidosis phenotype
  • Beta-hexosaminidase subunit alpha deficiency (GM2 gangliosidosis, B variant / Tay-Sachs disease)
  • Beta-hexosaminidase subunit beta deficiency (GM2 gangliosidosis, O variant / Sandhoff disease)
  • GM2 activator protein deficiency (GM2 gangliosidosis, AB variant)
  • Beta-galactosylceramidase deficiency (Globoid cell leukodystrophy; Krabbe disease)
  • Atypical Krabbe disease due to saposin A deficiency
  • Arylsulfatase A deficiency (Metachromatic leukodystrophy)
  • Metachromatic leukodystrophy due to saposin B deficiency
  • Formyl-glycine generating enzyme deficiency (Multiple sulfatase deficiency)
  • Alpha-galactosidase A deficiency (Fabry disease)
  • Acid ceramidase deficiency, inflammatory phenotype (Farber disease)
  • Acid ceramidase deficiency, primary neurologic phenotype (Farber disease)
  • Combined saposin deficiency

Subnetworks

LSD 1

LSD

Lysosomal storage disorders

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