Learn About Gaucher Disease
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.
Variants (also known as mutations) in the GBA1 gene cause Gaucher disease. The GBA1 gene provides instructions for making an enzyme called lysosomal acid glucosylceramidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Variants in the GBA1 gene greatly reduce or eliminate the activity of lysosomal acid glucosylceramidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.
Common conditions include: Gaucher Disease Type 1, Gaucher Disease Type 2, Gaucher Disease Type 3
Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder in Europe, Israel, Canada, and the United States. This form occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds; it affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. Types 2 and 3 are uncommon and do not occur more frequently in people of Ashkenazi Jewish descent. These types can be more prevalent than type 1 in certain regions, such as Egypt, India, Japan, Poland, and Sweden.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Duke Health Integrated Practice Inc
Priya Kishnani is a Pediatrics provider in Durham, North Carolina. Dr. Kishnani and is rated as an Elite provider by MediFind in the treatment of Gaucher Disease. Her top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.
Henderson County Hospital Corporation
John Hill is a Hematologist Oncology specialist and a Hematologist in Hendersonville, North Carolina. Dr. Hill and is rated as an Advanced provider by MediFind in the treatment of Gaucher Disease. His top areas of expertise are Lung Adenocarcinoma, Small Cell Lung Cancer (SCLC), Acute Mountain Sickness, and Iron Deficiency Anemia. Dr. Hill is currently accepting new patients.
Asheville Medicine And Pediatrics
Vinayak Kottoor is a Medical Genetics specialist and a Pediatrics provider in Arden, North Carolina. Dr. Kottoor and is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease. His top areas of expertise are Camptodactyly Syndrome Guadalajara Type 2, Campomelic Dysplasia, Meier-Gorlin Syndrome, and Coffin-Siris Syndrome. Dr. Kottoor is currently accepting new patients.
Summary: This is a prospective single-center, open, single-arm, single-dose intravenous infusion study to evaluate the safety and initial efficacy, pharmacodynamic characteristics, immunogenicity, biodistribution, and viral shedding of LY-M001 injection.This study mainly includes the main study stage and the long-term follow-up study stage.
Summary: Gaucher disease (GD) is caused by mutations in the GBA1 gene, which leads to a lack or reduction of GCase activity. The consequences of this deficiency are generally attributed to the accumulation of the GCase substrate, Glucosylceramide (GlcCer), in macrophages in the liver, spleen, kidney, bone, lung, and even the brain, inducing their transformation into Gaucher cells whose cell cytoplasm prese...
Published Date: November 01, 2022
Published By: National Institutes of Health