Looking for enzymes associated with Gaucher disease and two other disorders in the same dried blood sample is a good way to detect the disorders, a German and Austrian study reports. The other lyposomal diseases that the simultaneous screening method detected were Niemann-Pick types A and B and lysosomal acid lipase deficiency.
Medical professionals in several countries use a range of approaches to treat Gaucher disease (GD), and data from these strategies can help determine the impact of different treatment patterns on real-world outcomes, a recent study said. The findings were reported at WORLDSymposium 2018 in San Diego, California, in a poster titled…
Women receiving enzyme replacement therapy for Gaucher disease can continue taking it while pregnant with little risk of a miscarriage or a problem delivering their baby, a study suggests. Researchers reported the finding at the WORLDSymposium on lysosomal disease in San Diego, Feb. 5-9. The poster presentation, “…
A new study by researchers at Houston’s Baylor College of Medicine has linked a group of genes associated with lysosomal storage disorders, such as Gaucher disease, to the onset and progression of Parkinson’s disease. The study, “Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease,” appeared…
Glucosylsphingosine (lyso-Gb1), a recently identified biomarker for Gaucher disease (GD), was shown to contribute to the development or peripheral symptoms in a mouse study, potentially validating its use as a diagnostic tool, according to new research. The study, “Glucosylsphingosine Causes Hematological and Visceral Changes in Mice—Evidence for a Pathophysiological…
The plant–based enzyme Elelyso (taliglucerase alfa), developed by Protalix and Pfizer as an intravenous enzyme replacement therapy (ERT), is seen as effective and safe for the treatment of children with Type 1 Gaucher disease (GD), a literature review from 1995 to 2016 found. Elelyso therapy in pediatric patients showed…
New research reports that the difference in severity of Parkinson’s symptoms in patients with Gaucher disease may be due to the difference in the genetic makeup of cells in individuals. The study, “Parkinson disease in Gaucher disease,” was published in the Journal of Clinical Movement Disorders. Gaucher disease…