Gaucher Disease Type 1
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Gaucher Disease Type 1 Overview

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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
Dr. Priya S. Kishnani
Pediatrics
Elite in Gaucher Disease Type 1
Dr. Priya S. Kishnani
Pediatrics

Duke Health Integrated Practice Inc

40 Duke Medicine Cir, 
Durham, NC 
919-684-8111
Languages Spoken:
English
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Accepting New Patients

Priya Kishnani is a Pediatrics provider practicing medicine in Durham, North Carolina. Dr. Kishnani is rated as an Elite provider by MediFind in the treatment of Gaucher Disease Type 1. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses 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
Ari Zimran
Elite in Gaucher Disease Type 1
Ari Zimran
12 Bayit Street, 
Jerusalem, JM, IL 

Ari Zimran practices practicing medicine in Jerusalem, Israel. Mr. Zimran is rated as an Elite expert by MediFind in the treatment of Gaucher Disease Type 1. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Gaucher Disease Type 1, Gaucher Disease, Farber Lipogranulomatosis, Gaucher Disease Type 3, and Splenectomy.

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

Pilar Giraldo practices practicing medicine in Zaragoza, Spain. Giraldo is rated as an Elite expert by MediFind in the treatment of Gaucher Disease Type 1. They are also highly rated in 22 other conditions, according to our data. Their clinical expertise encompasses Gaucher Disease Type 1, Gaucher Disease, Farber Lipogranulomatosis, Fabry Disease, and Splenectomy.

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