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?
Experienced in Gaucher Disease Type 1
Dr. Jaswinder P. Singh
Hematology Oncology | Hematology | Oncology
Experienced in Gaucher Disease Type 1
Dr. Jaswinder P. Singh
Hematology Oncology | Hematology | Oncology

Kansas City Urology Care PA

17525 Medical Ctr Pkwy, 
Independence, MO 
 (167.3 mi)
816-994-3150
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Jaswinder Singh is a Hematologist Oncology specialist and a Hematologist in Independence, Missouri. Dr. Singh and is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease Type 1. His top areas of expertise are Pancreatic Cancer, Familial Colorectal Cancer, Colorectal Cancer, Bone Marrow Aspiration, and Endoscopy. Dr. Singh is currently accepting new patients.

Experienced in Gaucher Disease Type 1
Dr. Patricia A. Benoist
Family Medicine | Pediatrics
Experienced in Gaucher Disease Type 1
Dr. Patricia A. Benoist
Family Medicine | Pediatrics

Texas County Memorial Hospital

1337 S Sam Houston Blvd, 
Houston, MO 
 (36.8 mi)
417-967-5435
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Patricia Benoist is a Family Medicine specialist and a Pediatrics provider in Houston, Missouri. Dr. Benoist and is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease Type 1. Her top areas of expertise are Iron Deficiency Anemia, Childhood Iron Deficiency Anemia, Low Sodium Level, and High Cholesterol. Dr. Benoist is currently accepting new patients.

 
 
 
 
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Experienced in Gaucher Disease Type 1
Dr. Charles H. Morgan
Oncology | Palliative Medicine | Hematology
Experienced in Gaucher Disease Type 1
Dr. Charles H. Morgan
Oncology | Palliative Medicine | Hematology

Ozarks Medical Center

1100 N Kentucky Ave, 
West Plains, MO 
 (46.5 mi)
417-256-9111
Experience:
47+ years
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Charles Morgan is an Oncologist and a Palliative Medicine provider in West Plains, Missouri. Dr. Morgan has been practicing medicine for over 47 years and is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease Type 1. His top areas of expertise are Familial Colorectal Cancer, Paget Disease of the Breast, Large-Cell Immunoblastic Lymphoma, and Myelodysplastic Syndrome (MDS). Dr. Morgan is currently accepting new patients.

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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
Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory Medications
Who is this study for: Patients with Gaucher Disease
Enrollment Status: Recruiting
Publish Date: November 18, 2024
Intervention Type: Drug
Study Drug: N-acetylcysteine
Study Phase: Phase 2

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