Glucosylsphingosine is a reliable response biomarker in Gaucher disease

American Journal of Hematology, EarlyView.
Source: American Journal of Hematology - Category: Hematology Source Type: research

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Gba-444 knock-in mice carrying the milder L444P Gaucher disease mutation (Gba-L444P mice) and the severe Gaucher disease mutation (Gba-L444P A456P mice).Gba-L444P and Gba-L444P A456P mice, respectively, carry common gene mutations for milder or severe Gaucher disease, a lysosomal storage disease. Gaucher Disease is caused by mutations in the lysosomal enzyme, glucocerebrosidase. Deficiency of enzyme activity leads to the accumulation of glucosylceramide in liver, spleen, bone, and in the most severe cases, the central nervous system. A single insertion mutagenesis procedure was used to introduce mutations found in human Ga...
Source: NIDDK Research Resources - Category: Endocrinology Source Type: research
ConclusionsSignificant fibrosis is present in a remarkable proportion of adult type 1 GD patients. Splenectomy, GD severity and GBA1 genotypes are major GD-related predictors of liver fibrosis. Length of ERT is inversely correlated with liver disease in GD patients, suggesting a beneficial effect of ERT on liver fibrosis. However, GD patients on stable ERT should be monitored for metabolic complications, since MetS features may enhance liver disease progression despite optimal GD control.
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Human Mutation,Volume 0, Issue ja, -Not available-.
Source: Human Mutation - Category: Genetics & Stem Cells Authors: Source Type: research
We report a patient who presented in the first year of life with visceral involvement and severe neutropenia in whom the propositus had a unique coexistence of Gaucher Disease and severe congenital neutropenia associated with a mutation in HAX1. In contrast to his expired siblings he had experienced no severe infections. These clinical observations suggest that enzyme replacement therapy may display a modulating factor with respect to the clinical course of SCN.SynopsisOur patient is the only report of the combination of Gaucher Disease and Kostmann Syndrome in the literature. The clinical course of our patient is not seve...
Source: Blood Cells, Molecules, and Diseases - Category: Hematology Source Type: research
Abstract Gaucher disease (GD) is a rare autosomal recessive disorder caused by deficient activity of β-glucocerebrosidase resulting in the accumulation of glucosylceramide. Bone disease is a common feature with radiological evidence in up to 93% of patients. Severity of bone involvement ranges from osteoporosis to pathological fractures. The progressive course of type 1 GD is largely mitigated by treatment with enzyme replacement therapy (ERT) or substrate reduction. A number of studies have shown some patients suffer bone events while receiving ERT. Studies of biochemical markers of bone turnover have genera...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
No abstract available
Source: Medicine - Category: Internal Medicine Tags: Erratum Source Type: research
Authors: Gary SE, Ryan E, Steward AM, Sidransky E Abstract INTRODUCTION: Gaucher disease, the autosomal recessive deficiency of the lysosomal enzyme glucocerebrosidase, is associated with wide phenotypic diversity including non-neuronopathic, acute neuronopathic, and chronic neuronopathic forms. Overlap between types can render definitive diagnoses difficult. However, differentiating between the different phenotypes is essential due to the vast differences in clinical outcomes and response to therapy. Genotypic information is helpful, but cannot always be used to make clinical predictions. Current treatments for Ga...
Source: Expert Review of Endocrinology and Metabolism - Category: Endocrinology Tags: Expert Rev Endocrinol Metab Source Type: research
AbstractPreliminary data suggest a positive effect of taliglucerase alfa on the bone marrow infiltration of Gaucher cells. In this investigator-initiated study, we report the impact of taliglucerase alfa on the bone marrow fat fraction (FF) in 26 patients assessed by quantitative chemical shift imaging (QCSI). Of 15 treatment-na ïve patients (median age 48 [range 24–68] years), eight had baseline FF ≤ 0.3, six of those with a FF ≤ 0.23 (‘bone at risk’). All significantly improved from a median baseline FF of 0.24 (0.15–0.32) to 1st year FF of 0.37 (0.25–0...
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research
Fetal gene therapy could be feasible for neuronopathic Gaucher disease, Published online: 30 July 2018; doi:10.1038/s41582-018-0053-4Fetal gene therapy could be feasible for neuronopathic Gaucher disease
Source: Nature Reviews Neurology - Category: Neurology Authors: Source Type: research
Authors: Rodi ć, Predrag / Lakočević, Milan / Pavlović, Sonja / Đurašević, Teodora Karan / Kostić, Tatjana / Vuković, Nada Suvajdžić / Šumarac, Zorica / Petakov, Milan / Janić, Dragana
Source: Journal of Medical Biochemistry - Category: Biochemistry Source Type: research
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