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Related Experiment Video

Updated: May 13, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Published on: December 20, 2017

Gaucher disease: a comprehensive review.

Barry E Rosenbloom¹, Neal J Weinreb

¹David Geffen School of Medicine at UCLA and Cedars-Sinai, the Comprehensive Gaucher Diagnostic and Treatment Center at Cedars-Sinai Medical Center, Beverly Hills, California 90211, USA. rosenbloom@toweroncology.com

Critical Reviews in Oncogenesis

|March 21, 2013

Summary

Gaucher disease (GD) is a metabolic disorder caused by glucocerebrosidase deficiency, leading to organ damage. Modern therapies have significantly improved patient outcomes, particularly for type 1 GD.

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Area of Science:

Biochemistry
Genetics
Metabolic Disorders

Background:

Gaucher disease (GD) is an inherited metabolic disorder.
It results from a deficiency in the enzyme glucocerebrosidase.
This deficiency causes glucocerebroside accumulation in organs like the liver, spleen, and bone marrow.

Observation:

Patients exhibit symptoms such as anemia, thrombocytopenia, and hepatosplenomegaly.
Bone complications include infarcts, aseptic necrosis, and osteoporosis.
Types 2 and 3 Gaucher disease involve neurological complications.

Findings:

Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) have transformed GD management.
These therapies have led to a significant reduction in disease morbidity, especially in type 1 GD.
Investigational therapies are also being developed.

Implications:

Advances in GD treatment offer improved quality of life for affected individuals.
Understanding the disease spectrum guides therapeutic strategies.
Ongoing research promises further advancements in Gaucher disease care.