Gaucher DiseaseSymptoms, Doctors, Treatments, Advances & More
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 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.
Texas Neurology, P.A.
Dr. Schiffmann is a renowned expert on neurometabolic diseases. He earned his medical degree from the University of Liège, Belgium and a Master of Health Sciences in Clinical Research from Duke University. He is board-certified in Neurology with a Special Qualification in Child Neurology and is a Fellow of the American Academy of Neurology. Dr. Schiffmann was a lead researcher at the United States National Institutes of Health in Bethesda, Maryland for over 17 years (1991-2007) and then the Director of the Institute of Metabolic Disease at the Baylor Scott & White Research Institute in Dallas, Texas, 2008-2019. Dr. Schiffmann is a Professor in the Department of Internal Medicine, Texas Christian University and a Clinical Professor, Texas A&M University Medical School College of Medicine. He is also a Senior Vice President for Clinical Research at 4D Molecular Therapeutics. Dr. Schiffmann has been performing pre-clinical and clinical research on lysosomal storage diseases since 1991 with a special focus on the natural history, pathogenesis and therapy of Fabry disease, Gaucher disease and the leukodystrophies. One of his particular interests and areas of expertise is to address patients with undiagnosed neurological diseases. Dr. Schiffmann has published 276 peer-reviewed research articles and over 15 book chapters. Dr. Schiffmann is rated as an Elite provider by MediFind in the treatment of Gaucher Disease. His top areas of expertise are Gaucher Disease Type 3, Fabry Disease, Gaucher Disease, and Leukodystrophy.
Ari Zimran practices in Jerusalem, Israel. Mr. Zimran is rated as an Elite expert by MediFind in the treatment of Gaucher Disease. His top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Farber Lipogranulomatosis, Splenectomy, and Hip Replacement.
Summary: The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology. The study and management of splenomegaly is well described among the different medical specialties to which these patients arrive. After the application of the different algo...
Summary: The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
Published Date: November 01, 2022
Published By: National Institutes of Health