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Learn About Gaucher Disease Type 1

View Main Condition: Gaucher Disease

What is the definition of Gaucher Disease Type 1?
Gaucher disease type 1 (GD1) is the most common form of Gaucher disease. Like other types of Gaucher disease, GD1 is caused when not enough glucocerebrosidase (GBA) is made. GBA is an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-filled Gaucher cells build up in areas like the spleen, liver and bone marrow. Unlike type 2 and 3, GD1 does not usually involve the brain and spinal cord (central nervous system). Symptoms of GD1 include enlarged spleen and liver, low blood cell counts, bleeding problems and bone disease. The symptoms can range from mild to severe and may appear anytime from childhood to adulthood. Gaucher disease is caused by changes in the GBA gene and is inherited in an autosomal recessive manner. Diagnosis is suspected by clinical symptoms and confirmed by measuring GBA enzyme activity or genetic testing.
What are the alternative names for Gaucher Disease Type 1?
  • Gaucher disease type 1
  • Acid beta-glucosidase deficiency
  • GBA DEFICIENCY
  • GD 1
  • Gaucher disease, noncerebral juvenile
  • Glucocerebrosidase deficiency
Who are the top Gaucher Disease Type 1 Local Doctors?
Elite in Gaucher Disease Type 1
Elite in Gaucher Disease Type 1

Duke Health Integrated Practice Inc

40 Duke Medicine Cir, 
Durham, NC 
Languages Spoken:
English
Accepting New Patients

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 Type 1. 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.

Elite in Gaucher Disease Type 1
Elite in Gaucher Disease Type 1
12 Bayit Street, 
Jerusalem, JM, IL 

Ari Zimran practices in Jerusalem, Israel. Mr. Zimran is rated as an Elite expert by MediFind in the treatment of Gaucher Disease Type 1. His top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Farber Lipogranulomatosis, Splenectomy, and Hip Replacement.

 
 
 
 
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Elite in Gaucher Disease Type 1
Elite in Gaucher Disease Type 1
Iss, 
Zaragoza, AR, ES 

Pilar Giraldo practices in Zaragoza, Spain. Giraldo is rated as an Elite expert by MediFind in the treatment of Gaucher Disease Type 1. Their top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Farber Lipogranulomatosis, Fabry Disease, and Splenectomy.

What are the latest Gaucher Disease Type 1 Clinical Trials?
Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory Medications

Summary: The purpose of this study is to measure levels of blood and brain chemicals related to oxidative stress and inflammation in healthy volunteers and individuals with Type 1 Gaucher disease (GD1) to see if these levels are altered by GD1.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center