Glucosylsphingosine is a cytotoxic compound. Accumulation of glucosylsphingosine in brain and other tissues occurs in patients with Gaucher disease, which is an inherited deficiency of lysosomal glucocerebrosidase, which converts glucosylsphingosine to glucose and sphingosine.
Splenectomy in children with the Norrbottnian type of Gaucher disease is followed by increased blood levels of glucosylceramide and impaired neurological and mental status. High blood levels are associated with an increased accumulation of glucosylceramide in perivascular Gaucher cells in
Molecular genetics and metabolism, 129(4), 286-291 (2020-02-12)
In Gaucher disease type 1 (GD1), genetic deficiency of lysosomal glucocerebrosidase results in the accumulation of glucosylceramide and glucosylsphingosine (GlcSph), that underlie chronic lipid-mediated metabolic inflammation. An important age-related phenotype is high risk of monoclonal gammopathy (MG), including multiple myeloma.
Gaucher disease is a glycolipid storage disorder characterized by accumulation of glucocerebroside in the liver, spleen, and bones, and caused by a deficiency of glucocerebrosidase. Glucocerebrosidase cDNA has been cloned and sequenced, and much has been learned about the synthesis
Journal of human genetics, 62(8), 763-768 (2017-03-31)
Gaucher disease (GD) is an inherited metabolic disorder that involves accumulation of glycolipid glucocerebroside in monocyte-macrophage cells, which can result in multiple organ damage. Enzyme replacement and substrate reduction therapies have improved the potential for early diagnosis and treatment. Determining
Journal of internal medicine, 246(6), 587-590 (2000-01-05)
Chronic Gaucher disease [GD] in association with systemic AL amyloidosis is extremely rare. We describe a 46-year-old Greek male with chronic GD confirmed by low glucocerebroside activity in fibroblasts and N370S/L444P mutations at the cerebrosidase gene, who also had systemic
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