A definitive diagnosis of Gaucher disease is established by:
- Glucocerebrosidase enzyme assay: demonstrating deficiency1
- GBA gene sequencing: demonstrating 2 pathogenic variants in trans (one from each parent). Though identification of pathogenic alleles is not required for diagnosis, it can provide secondary confirmation and important information related to phenotype
- Six pathogenic variants account for the majority (97%) of all pathogenic alleles in patients of Ashkenazi Jewish heritage2
Gaucher disease has a wide phenotypic spectrum ranging from severe neuronopathic forms to
chronic visceral forms, with a chronic neurovisceral form between these two ends of the spectrum.3,4 Gaucher disease presents with: anemia, thrombocytopenia, splenomegaly, and bone involvement due
to displacement of normal marrow cells with disease-affected cells resulting in bone pain, osteopenia, and growth retardation in children.3,4
Biomarker: Glucosylsphingosine (lyso-GL-1)
Glucosylsphingosine (lyso-GL-1) is the deacylated form of glucosylceramide (GL-1). Both lyso-GL-1 and
GL-1 accumulate in Gaucher disease as a direct result of acid β-glucosidase deficiency, making lyso-GL-1
a highly specific biomarker.
To read more about lyso-GL-1, including testing options.
1. Mistry PK, et al. Am J Hematol. 2011;86(1):110–5. 2. Bronstein S, et al. Isr Med Assoc J. 2014;16(11):683–685. 3. Baris HN, et al. Pediatr Endocrinal Rev. 2014;12 Suppl 1 (01):72–81.
4. McGovern MM, et al. Orphanet J Rare Dis. 2017;12(1):41.
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