Glucocerebroside

Glucocerebroside (also called glucosylceramide) is any of the cerebrosides in which the monosaccharide head group is glucose.

glucose
sphingolipid

Clinical significance

In Gaucher disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome. [1] Substrates build-up within the lysosome of macrophages, which are called Gaucher cells, and have a distinct appearance similar to "wrinkled tissue paper" under light microscopy. [2]

See also

References
  1. Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, de Villemeur TB, Berger MG (Feb 2017). "A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments". Pediatr Endocrinol Rev. 18 (2): 441. doi:10.3390/ijms18020441. PMID 28218669.
  2. Baris HN, Cohen IJ, Mistry PK (Sep 2014). "Gaucher Disease: The Metabolic Defect, Pathophysiology, Phenotypes And Natural History". Pediatr Endocrinol Rev. 12 (01): 72–81. PMID 25345088.


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