ReviewPhilosophical transactions of the Royal Society of London. Series B, Biological sciences2003
Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease.
Review in Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 46 citations in OpenAlex.
- The Spectrum of Neurological Manifestations Associated with Gaucher Disease.Diseases (Basel, Switzerland) · 2017Review
- New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones.Journal of neuroscience research · 2016Review
- Stability of refrigerated miglustat after preparation in InOrpha(®) flavored suspending excipient for compounding of oral solutions and suspensions.Drug design, development and therapy · 2015Article
- An unusual presentation of Gaucher disease in an infant with progressive dyspnea.Ochsner journal · 2013Article
- Munchausen syndrome by proxy mimicking as Gaucher disease.European journal of pediatrics · 2010Article
- Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.European journal of human genetics : EJHG · 2010Article
- Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene.Lipids in health and disease · 2006Article
- Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
- A historical perspective of the glycosphingolipids and sphingolipidoses.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Article
- Future perspectives for glycolipid research in medicine.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
- Gaucher disease and the clinical experience with substrate reduction therapy.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycosphingolipid (GSL) lysosomal storage disorders are inherited enzyme deficiencies that result in pathological lysosomal accumulation of glycolipids, with widespread clinical consequences. Type 1 Gaucher disease is the commonest of these; the deficient enzyme in this condition is glucocerebrosidase. Clinical manifestations include hepatosplenomegaly, thrombocytopenia, anaemia, recurrent infections and skeletal lesions. The condition can be treated with intravenous enzyme replacement therapy (ERT). Substrate reduction therapy is a new approach in which glycolipid accumulation is counteracted not by replacing the deficient enzyme but by reducing the substrate level to better balance residual activity of the deficient enzyme. Miglustat is an inhibitor of glucosylceramide synthase, a key enzyme in GSL synthesis. Oral administration of miglustat to patients with type 1 Gaucher disease attenuates the synthesis of glucocerebroside, the substrate of the deficient glucocerebrosidase. In the first clinical study, patients with type 1 Gaucher disease who had enlargement of the liver or spleen and (if present) the spleen at baseline received 12 months treatment with oral miglustat. There were mean decreases in liver and spleen volumes of 12% (7.9-16.4, p < 0.001) and 19% (14.3-23.7, p < 0.001), respectively. Mean haemoglobin increased by 0.26 g dl(-1) (-0.5-0.57, not statistically significant) and platelet count by 8.3 x 10(9) l(-1) (1.9-14.7, p = 0.014).
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.