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Elevated circulating lyso-globotriaosylsphingosine concentration

MedGen UID:
1710121
•Concept ID:
C5397674
•
Finding
HPO: HP:0032657

Definition

An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating lyso-globotriaosylsphingosine concentration

Recent clinical studies

Clinical prediction guides

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.
Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van Roomen C, Mirzaian M, Wijburg FA, Linthorst GE, Vedder AC, Rombach SM, Cox-Brinkman J, Somerharju P, Boot RG, Hollak CE, Brady RO, Poorthuis BJ
Proc Natl Acad Sci U S A 2008 Feb 26;105(8):2812-7. Epub 2008 Feb 19 doi: 10.1073/pnas.0712309105. PMID: 18287059Free PMC Article

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