Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

• Published in: International journal of molecular sciences Vol. 20; no. 12; p. 3033
• Main Authors: Hurvitz, Noa, Dinur, Tama, Becker-Cohen, Michal, Cozma, Claudia, Hovakimyan, Marina, Oppermann, Sebastian, Demuth, Laura, Rolfs, Arndt, Abramov, Aya, Zimran, Ari, Revel-Vilk, Shoshana
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 21.06.2019; MDPI
• Subjects: Adolescent; Age; Anemia; Avascular necrosis; biomarker; Biomarkers; Biomarkers - blood; Biomedical materials; Bone marrow; Child; Child, Preschool; Children; Communication; Compliance; Enzyme Replacement Therapy; Enzymes; Female; Fractures; Gaucher disease; Gaucher Disease - blood; Gaucher Disease - diagnosis; Gaucher Disease - drug therapy; Gaucher's disease; Genotype & phenotype; Glucosylceramidase - therapeutic use; glucosylsphingosine; Hemoglobin; Humans; Infant; Liver; lyso-Gb1; Macrophages; Male; Osteonecrosis; Pancytopenia; Psychosine - analogs & derivatives; Psychosine - blood; Signs and symptoms; Spleen; glucosylsphingosine; Gaucher disease; biomarker; children; lyso-Gb1

The role of glucosylsphingosine (lyso-Gb1), a downstream metabolic product of glucosylceramide, for monitoring treated and untreated children with Gaucher disease (GD) has not yet been studied. We reviewed the clinical charts of 81 children (<18 years), 35 with mild type 1 GD (GD1), 34 with sever...