Abnormal circulating lipid concentration Elevated circulating lyso-globotriaosylsphingosine concentration 2020-02-16T12:46:25Z Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A that affects males and shows disease expression in heterozygotes. Lysosomal accumulation of its substrate globotriaosylceramide (Gb3) that is prominent in endothelial cells is thought to cause the progressive renal insufficiency, cardiac involvement, and CNS pathology in Fabry patients. Plasma Lyso-Gb3 is considered to be a biomarker for Fabry disease. An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.