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Lysosomal degradation of glycosphingolipids with responsible gene products and diseases connected to defects

Abbreviations: ASA, Arylsulfatase A; ASAH1, acid ceramidase; GALC, β-galactosylceramidase; GBA, β-glucocerebrosidase; GLA, α-galactosidase A; GLB1, β-galactosidase; HEXA, β-hexosaminidase A; HEXB, β-hexosaminidase B; NEU3/4, neuraminidase 3/4.

(Source: van Eijk M, Ferraz MJ, Boot RG, Aerts JM. Lyso-glycosphingolipids: presence and consequences. Essays Biochem 2020;64[3]:565-78. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)

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  • Adult globoid cell leukodystrophy
  • Diffuse brain-sclerosis
  • Diffuse gliosis
  • Early infantile globoid cell leukodystrophy
  • Juvenile globoid cell leukodystrophy
  • Late infantile globoid cell leukodystrophy
  • Leukodystrophy