Genetic Studies of Lysosomal Storage Disorders
Published on BioPortfolio: 2015-04-03T08:31:46-0400
Clinical Trials
Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint...
Gaucherite - A Study to Stratify Gaucher Disease
The purpose of this research is to review data already collected and to collect new data from adults and children in England with Gaucher Disease to determine clinical factors which predic...
Genzyme Osteopenia/Osteoporosis Study
Gaucher disease is a most common genetic metabolic disease characterized by low platelet number, liver and spleen enlargement and various forms of bone diseases including low bone mineral ...
International Collaborative Gaucher Group (ICGG) Gaucher Registry
The ICGG Gaucher Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Gaucher disease, irrespectiv...
An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease
The purpose of this study is to evaluate the long-term safety of every other week dosing of Gene-Activated® human glucocerebrosidase (GA-GCB, velaglucerase alfa) intravenously in patients...
PubMed Articles
Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognize the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic...
Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis?
Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis.
Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes. A beta-Glucosidase (GBA) gene defect ...
Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy.
Gaucher's disease is the most common lysosomal storage disease which occurs due to a deficiency of the enzyme glucocerebrosidase. This enzyme deficiency leads to accumulation of glucocerebrosidase in ...
Exploring genetic modifiers of Gaucher disease: The next horizon.
Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from mutations in the gene GBA1 that lead to a deficiency in the enzyme glucocerebrosidase. Accumulation of the enzyme's ...
Medical and Biotech [MESH] Definitions
Gaucher Disease
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Glucosylceramidase
A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45.
Glucosylceramides
Cerebrosides which contain as their polar head group a glucose moiety bound in glycosidic linkage to the hydroxyl group of ceramides. Their accumulation in tissue, due to a defect in beta-glucosidase, is the cause of Gaucher's disease.
Enzyme Replacement Therapy
Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of the enzyme deficiency (e.g., GLUCOSYLCERAMIDASE replacement for GAUCHER DISEASE).
Tartrate-resistant Acid Phosphatase
One of several acid phosphatases in humans, other mammals, plants, and a few prokaryotes. The protein fold of tartrate-resistant acid phosphatase (TRAP) resembles that of the catalytic domain of plant purple acid phosphatase and other serine/threonine-protein phosphatases that also contain a metallophosphoesterase domain. One gene produces the various forms which include purple acid phosphatases from spleen and other tissues. Tartrate-resistant acid phosphatase is a biomarker for pathological states in which it is over-expressed. Such conditions include GAUCHER DISEASE; HODGKIN DISEASE; BONE RESORPTION; and NEOPLASM METASTASIS.
