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
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms20123033

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 severe GD1 and 12 with type 3 GD (GD3), followed at Shaare Zedek Medical Center between 2014-2018. Disease severity for GD1 was based on genotypes. Forty children (87%) with severe GD1 and GD3 received enzyme replacement therapy (ERT) compared to two children (6%) with mild GD1. Lyso-Gb1 measurements were conducted on dried blood spot samples taken at each clinic visit. Lyso-Gb1 levels were significantly lower in children with mild compared to severe GD1 ( = 0.009). In untreated children, lyso-Gb1 levels were inversely correlated with platelet counts. During follow-up, lyso-Gb1 increased in almost 50% of untreated children, more commonly in younger children. In treated children, lyso-Gb1 levels were inversely correlated with hemoglobin levels. The increase of lyso-Gb1 while receiving ERT, seen in eight children, was partly associated with compliance and weight gain. Lyso-Gb1 seems to be a useful biomarker for monitoring children with GD and should be included in the routine follow-up. Progressive increase in lyso-Gb1 levels in untreated children suggests ERT initiation.