Gaucher Disease Type 2 Overview

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Learn About Gaucher Disease Type 2

View Main Condition: Gaucher Disease

What is the definition of Gaucher Disease Type 2?
Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms usually develop by 3 months of age and include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and enlargement of the liver and spleen. Gaucher disease type 2 is caused by genetic changes in the GBA gene. It is inherited in an autosomal recessive pattern.
What are the alternative names for Gaucher Disease Type 2?
  • Gaucher disease type 2
  • GD 2
  • Gaucher disease, acute neuronopathic type
  • Gaucher disease, infantile cerebral
Who are the top Gaucher Disease Type 2 Local Doctors?
Diego A. De Idiaquez Bakula
Experienced in Gaucher Disease Type 2
Dr. Diego A. De Idiaquez Bakula
Hematology Oncology | Hematology | Oncology
Experienced in Gaucher Disease Type 2
Dr. Diego A. De Idiaquez Bakula
Hematology Oncology | Hematology | Oncology

University Of Alabama Health Services Foundation, PC

619 19th St S, 
Birmingham, AL 
 (83.9 mi)
205-934-3460
Experience:
26+ years
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Diego De Idiaquez Bakula is a Hematologist Oncology specialist and a Hematologist in Birmingham, Alabama. Dr. De Idiaquez Bakula has been practicing medicine for over 26 years and is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease Type 2. Her top areas of expertise are Poststreptococcal Glomerulonephritis, Monoclonal Gammopathy of Undetermined Significance (MGUS), Schnitzler Syndrome, and Familial Mixed Cryoglobulinemia. Dr. De Idiaquez Bakula is currently accepting new patients.

Advanced in Gaucher Disease Type 2
Dr. Khaleel K. Ashraf
Hematology Oncology | Hematology | Oncology
Advanced in Gaucher Disease Type 2
Dr. Khaleel K. Ashraf
Hematology Oncology | Hematology | Oncology

Hematology And Oncology Associates Of Alabama LLC

339 Walker Chapel Plaza, Suite 109, 
Birmingham, AL 
 (89.7 mi)
205-502-4700
Languages Spoken:
English, North American Indian
See accepted insurances
Accepting New Patients
Offers Telehealth

Khaleel Ashraf is a Hematologist Oncology specialist and a Hematologist in Birmingham, Alabama. Dr. Ashraf and is rated as an Advanced provider by MediFind in the treatment of Gaucher Disease Type 2. His top areas of expertise are Common Variable Immune Deficiency, Childhood Iron Deficiency Anemia, Primary Immunodeficiency (PID), and Iron Deficiency Anemia. Dr. Ashraf is currently accepting new patients.

 
 
 
 
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Experienced in Gaucher Disease Type 2
Dr. Rishi Agarwal
Gastroenterology
Experienced in Gaucher Disease Type 2
Dr. Rishi Agarwal
Gastroenterology

Birmingham Gastroenterology Associates PC

1 Independence Plz, Suite 900, 
Birmingham, AL 
 (81.1 mi)
205-271-8000
Languages Spoken:
English
See accepted insurances

Rishi Agarwal is a Gastroenterologist in Birmingham, Alabama. Dr. Agarwal and is rated as an Experienced provider by MediFind in the treatment of Gaucher Disease Type 2. His top areas of expertise are Chronic Erosive Gastritis, Familial Adenomatous Polyposis, Crohn's Disease, Endoscopy, and Colonoscopy.

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