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Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form - No positive effects after 2-years of miglustat therapy
- Source :
- Molecular genetics and metabolism, 104(4), 627-630. Academic Press Inc.
- Publication Year :
- 2011
-
Abstract
- Gaucher disease occurs mainly as a result of a deficiency of the lysosomal enzyme beta-glucocerebrosidase activity. A rare variant form of Gaucher disease is known in which saposin C required for glucosylceramide degradation is deficient. In an earlier paper we described the first cases of two siblings with the non-neuronopathic form of Gaucher disease caused by saposin C deficiency [Tylki-Szymanska et al., 2007 [1]]. In this article, we present a follow up of clinical and biochemical findings in one patient who has been treated with miglustat for two years. We observed that administration of miglustat failed to exert any favorable effect on the clinical condition, haematological parameters and glucosylceramide level in the serum. In two individuals (described in this article) very slow deterioration of the peripheral and central nervous systems was observed. (C) 2011 Elsevier Inc. All rights reserved
- Subjects :
- Adult
Male
medicine.medical_specialty
1-Deoxynojirimycin
Endocrinology, Diabetes and Metabolism
Disease
Biochemistry
Saposins
Endocrinology
Internal medicine
Miglustat
Genetics
Humans
Medicine
Treatment Failure
Diagnostic Errors
Enzyme Inhibitors
Molecular Biology
Gaucher Disease
business.industry
Glucosylceramide degradation
Substrate Deprivation Therapy
Splenomegaly
Variant form
Female
business
Hepatomegaly
medicine.drug
Subjects
Details
- Language :
- English
- ISSN :
- 10967192
- Volume :
- 104
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Molecular genetics and metabolism
- Accession number :
- edsair.doi.dedup.....a3cfda6e62c40ba69cff163aaa54902c