title: South African guidelines for the management of Gaucher disease, 2011.
abstract: BACKGROUND
  Gaucher disease is an autosomal recessive lysosomal glycosphingolipid storage disorder resulting from a deficiency of lysosomal enzyme acid β-glucosidase (glucocerebrosidase). This partial enzyme deficiency results in accumulation of glycosphingolipid-laden macrophages (Gaucher cells) throughout the liver, spleen, bone marrow, skeleton, lungs and brain (only in types 2 and 3).
  
  
  OBJECTIVE
  These guidelines aim to provide a standard of care for patients with Gaucher disease in keeping with international standards, but also realistic for South Africa, and to provide a shared-care model for treating physicians and funders regarding care for these patients.
  
  
  CONCLUSIONS
  All healthcare professionals involved in the diagnosis and management of Gaucher disease should take note of and implement these guidelines in clinical practice as far as possible.
  
  
  RESULTS
  These guidelines were developed through consensus by the Lysosomal Storage Disorder Medical Advisory Board. They are largely based on the UK 2005 National Guidelines for Gaucher Disease, but include new treatment recommendations for enzyme replacement therapy based on subsequent publications. The Southern African Society for Human Genetics (SASHG) (who have endorsed the guidelines) and the National Osteoporosis Foundation of South Africa (NOFSA) provided valuable input. GUIDELINES SPONSOR: Genzyme initiated the project and sponsored the meetings of the Advisory Board and all costs generated by these meetings.
  
  
  CONCLUSIONS
  It is intended that these guidelines will enable all patients suffering from Gaucher disease to be diagnosed and offered the best possible care available.
authors: Louisa
authors: L
authors: Bhengu
authors: Alan
authors: A
authors: Davidson
authors: Paul
authors: P
authors: du Toit
authors: Trevor
authors: T
authors: Gerntholtz
authors: Kenny
authors: K
authors: Govendragaloo
authors: Rene
authors: R
authors: Heitner
authors: Bertram
authors: B
authors: Henderson
authors: Lawrence
authors: L
authors: Mubaiwa
authors: Sheeba
authors: S
authors: Varughese
mesh_terms: D005776:Gaucher Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy*; D006801:Humans; D013019:South Africa / Q000453:epidemiology