Management of neuronopathic Gaucher disease: revised recommendations

A Vellodi; A Tylki-Szymanska; E H Davies; E Kolodny; B Bembi; T Collin-Histed; E Mengel; A Erikson; R Schiffmann

doi:10.1007/s10545-009-1164-2

Management of neuronopathic Gaucher disease: revised recommendations

J Inherit Metab Dis. 2009 Oct;32(5):660-664. doi: 10.1007/s10545-009-1164-2. Epub 2009 Aug 5.

Authors

A Vellodi¹, A Tylki-Szymanska², E H Davies³, E Kolodny⁴, B Bembi⁵, T Collin-Histed⁶, E Mengel⁷, A Erikson⁸, R Schiffmann⁹

Affiliations

¹ Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, WC1N 3JH, London, UK. VelloA@gosh.nhs.uk.
² The Children's Memorial Health Institute, Warsaw, Poland.
³ Institute of Child Health, London, UK.
⁴ Department of Neurology, New York University School of Medicine, New York, NY, USA.
⁵ Centro di Coordinamento Regionale per le Malattie Rare, Ospedale Universitario, Udine, Italy.
⁶ Gauchers Association Ltd., Dursley, Gloucestershire, GL11 4NG, UK.
⁷ Children's Hospital, Medical Center Gutenberg University Mainz, Mainz, Germany.
⁸ Department of Paediatrics, Umeå University, Umeå, Sweden.
⁹ Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA.

PMID: 19655269
DOI: 10.1007/s10545-009-1164-2

Abstract

The original guidelines drawn up for the management of the neuronopathic forms of Gaucher disease were felt to be in need of revision; in particular, the role of high-dose enzyme replacement therapy (120 IU/kg of body weight every 2 weeks) in stabilizing neurological disease. The existing published evidence was analysed; it was concluded that it did not support the role of high-dose ERT, although this might be required to treat severe visceral disease.

Publication types

Practice Guideline

MeSH terms

Counseling
Enzyme Replacement Therapy / methods
Gaucher Disease / classification
Gaucher Disease / diagnosis
Gaucher Disease / therapy*
Health Planning Guidelines*
Humans
Social Support