Elevated circulating glucosylsphingosine levels

[carolina-f]

Preferred term label:

Synonyms
Elevated circulating GlSph levels

Definition (free text, please give PubMed ID)
PMID: 28457694 Gaucher cells identified in his bone marrow and the highly elevated plasma chitotriosidase activity and glucosylsphingosine supported a diagnosis of Gaucher disease. However, the leukocyte β-glucosidase activity was in a normal range.
(...) Based on our findings, saposin C deficiency should be considered in view of the normal glucocerebrosidase activity and high level of chitotriosidase and glucosylsphingosine in patients with unexplained hepatosplenomegaly.

PMID: 26831127 LysoGb3 is particularly high in Fabry disease, while a markedly increased level of SPC is observed in Niemann-Pick type A/B, and a high GlSph content is specific of Gaucher disease. Remarkably, both LysoGb3 and GlSph were found to be increased in the two patients with PSAP deficiency.
(...) Molecular analysis and plasma lysoSLs profile, resulting in an increased amount of LysoGb3 and GlSph, were essential for diagnosis of PSAP deficiency.

Parent term (use hpo.jax.org/app)

Diseases characterized by this term ? (e.g. Orphanet or OMIM number)
Atypical Gaucher disease due to saposin C deficiency ORPHA:309252

Your nano-attribution (ORCID)
0009-0005-6714-5727