Gaucher Disease

Overview of lysosomal storage disorder.

Reviewed by Dr Kola Tytler MBBS CertHE MBA MRCGP (General Practitioner)
Last reviewed: 21 October 2025
GeneticsHaematology

Clinical Guidelines

NICE guideline [HST5]: Eliglustat for treating type 1 Gaucher disease
National
Consensus clinical management guidelines for Gaucher disease (Biegstraaten et al 2018, European Working Group on Gaucher Disease)
Local
Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force
Local
Expert consensus guideline on the diagnosis of type 1 Gaucher disease
Local
Guidelines - International Working Group on Gaucher Disease (IWGGD)
Local
Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice
Local
Paediatric Gaucher disease: a strategic collaborative approach from the European Medicines Agency and Food and Drug Administration
Local
Patient centered guidelines for the laboratory diagnosis of Gaucher Disease
Local
Pediatric Rare Diseases--A Collaborative Approach for Drug Development Using Gaucher Disease as a Model; Draft Guidance for Industry
Local
Recommendations for oral treatment for adult patients with type 1 Gaucher disease
Local
Screening, patient identification, evaluation, and treatment in Gaucher disease: Results from a Delphi consensus
Local