The progress on the application of glucosylsphingosine in the diagnosis and treatment of Gaucher′s disease / 中华实用儿科临床杂志

ABSTRACT

Gaucher′s disease (GD) is a rare autosomal recessive metabolic disease caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GBA). Variants in the GBA1 result in the deficiency or reduction of GBA activity, leading to the accumulation of its substrate glucocerebroside (Gb1; also known as glucosylceramide, GlcC) in mononuclear phagocytes of organs, including the liver, spleen, kidney, bone, lung, and even brain.Glucosylsphingosine (lyso-Gb1), a deacylated derivative of Gb1, is highly sensitive and specific for GD.This study reviews the role of lyso-Gb1 in the diagnosis, curative effect, prognosis evaluation and follow-up monitoring of GD, aiming to improve the understanding of the diagnosis and treatment progress of GD.