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Alternative metabolic pathway of glucosylceramide (GlcCer) accumulation due to glucocerebrosidase (GCase) deficiency (1)

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The expression of GCase varies from one cell type to another and depends on the tissue. In a mouse model of GCase deficiency (red cross), GlcCer is transformed via an alternative ceramidase pathway into glucosylsphingosine (red arrow), which is degraded by cytoplasmic GCase2 (GBA2 gene), active at a neutral pH, to sphingosine-1-phosphate (S1P), a very active metabolite (Mistry PK, Liu J, Sun L, et al. Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proc Natl Acad Sci U S A 2014;111[13]:4934-9).

Abbreviations: GCase, glucocerebrosidase; GlcCer, glucosylceramide; S1P, sphingosine-1-phosphate.

(Source: Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci 2017;18[2]:441. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)