Ten years’ experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease
- 1 March 2006
- journal article
- Published by Wiley in Acta Paediatrica
- Vol. 95 (3) , 312-317
- https://doi.org/10.1111/j.1651-2227.2006.tb02232.x
Abstract
Aim: To study the long‐term effects of enzyme replacement therapy on the neurological signs of chronic neuronopathic Gaucher disease and to evaluate some biochemical parameters for monitoring the treatment. Methods: Eight patients from the Norrbottnian cohort were followed during 10 y of treatment. They were followed with regular clinical observations, biochemical tests and psychometric testing. Results: After the start of treatment, their general well‐being improved and was stable during the follow‐up. In three of the patients there were some indications of slow neurological deterioration. The mean results of psychometric testing did not decrease. Glucosylceramide and chitotriosidase levels were useful in monitoring the treatment. The chemokine CCL18 also seems to be a useful parameter for future monitoring. Conclusions: Enzyme replacement therapy seems to slow down further neurological and mental deterioration in mild chronic neuronopathic (type 3) Gaucher disease.Keywords
This publication has 20 references indexed in Scilit:
- Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic interventionBlood, 2004
- Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3Neurobiology of Disease, 2003
- Enzyme Infusion Therapy of the Norrbottnian (Type 3) Gaucher DiseaseNeuropediatrics, 1995
- Enzyme Replacement Therapy of Infantile Gaucher DiseaseNeuropediatrics, 1993
- Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's DiseaseNew England Journal of Medicine, 1991
- Gaucher disease (type III): Intellectual profilePediatric Neurology, 1987
- Gaucher disease‐Norrbottnian type (III)Acta Paediatrica, 1986
- Neuropathology of the Norrbottnian type of Gaucher diseaseActa Neuropathologica, 1984
- Accumulation of Glucosylceramide and Glucosylsphingosine (Psychosine) in Cerebrum and Cerebellum in Infantile and Juvenile Gaucher DiseaseJournal of Neurochemistry, 1982
- Genetics of the SphingolipidosesPublished by Elsevier ,1962