1. Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders
- Author
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Papai Roy, Ratna Dua Puri, Divya C. Thomas, Jyotsna Verma, and I. C. Verma
- Subjects
2019-20 coronavirus outbreak ,medicine.medical_specialty ,Clinical Biochemistry ,Lysosomal storage disorders ,Biochemistry ,Gastroenterology ,Diagnostic aid ,Lyso ,Tandem Mass Spectrometry ,Internal medicine ,Humans ,Medicine ,In patient ,Sphingolipids ,business.industry ,Biochemistry (medical) ,Indian population ,General Medicine ,respiratory system ,medicine.disease ,Fabry disease ,Molecular analysis ,Lysosomal Storage Diseases ,Fabry Disease ,lipids (amino acids, peptides, and proteins) ,Lysosomes ,business ,Biomarkers ,Chromatography, Liquid - Abstract
Background & Aims Lysosomal storage disorders (LSDs) remain a significant cause of morbidity in the Indian population and treatment is largely out of reach for most patients. Although data on enzymatic and molecular diagnosis of Gaucher disease (GD) and Fabry disease (FD) in Indian patients are available, the present study intended to establish the pathogenic levels of Lyso GL-1 and Lyso GL-3 in patients of GD and FD respectively as diagnostic aids. Materials and Methods From 2017 to 2019, ninety confirmed Gaucher cases (by enzymatic and molecular analysis) were tested for chitotriosidase (fluorometrically) and Lyso GL-1 (LC-MS/MS) and ten confirmed Fabry cases were analyzed for Lyso GL-3 (LC-MS/MS). Results Lyso GL-1 (median: 685.5 ng/mL, cut-off: 14) and Lyso GL-3 (median: 75.6 ng/mL, cut-off: 3.5) were found to be elevated in all enzymatically deficient patients of GD and FD respectively, however, no specific trend was observed between the levels of these biomarkers and the pathogenic variant(s) present in the patients of these disorders. Conclusions This is the first report on Lyso GL-1 and Lyso GL-3 levels in Indian patients of GD and FD respectively. These results will be useful for early diagnosis to improve management of these LSDs.
- Published
- 2021