We present a report of a neuronopathic GD patient whose myoclonic epilepsy improved after combination therapy with imiglucerase and miglustat. [ncbi.nlm.nih.gov]

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res 2003; 53(3): 387–95 PubMed CrossRef Google Scholar 12. Taddei TH, Kacena KA, Yang M, et al. [link.springer.com]

Intravenous Administration Administer via intravenous infusion. Do not administer by any other route. Do not use vials that are not yet reconstituted if discoloration or particulate matter are present. [pdr.net]

pruritus, flushing, urticaria, angioedema, chest discomfort, dyspnea, coughing, cyanosis, hypotension) reported during or shortly after IV infusion; anaphylactoid reactions reported in 1 Carefully reevaluate therapy if substantial clinical evidence [drugs.com]

Abstract Gaucher disease is a common inborn error of metabolism leading to widespread chronic inflammation and often thrombocytopenia. [ncbi.nlm.nih.gov]

We pride ourselves on our rigorous editorial processes and innovative approach to content delivery. [medicinescomplete.com]

After 3 months of treatment, immediately after starting an infusion, he experienced flushing, cough, tachycardia, palpitation, chest pain and excessive sweating, which reoccurred on a consecutive administration. [ncbi.nlm.nih.gov]

After 3 months of treatment, immediately after starting an infusion, he experienced flushing, cough, tachycardia, palpitation, chest pain and excessive sweating, which reoccurred on a consecutive administration. [ncbi.nlm.nih.gov]

Previous reports indicating disturbance in glucose and lipid metabolism in GDI patients suggested a posible alteration in body composition in this group of patients. [ncbi.nlm.nih.gov]

Finally, the author thanks Carolyn Sawyer (PhD) and Susan Graham (BSc, MSc and MBChB) for critical review of the manuscript, Tim Edmunds (PhD) for scientific discussion and helpful suggestions and Robert Brown and Trent Richardson for graphic design of [doi.org]

Studies also suggested that imiglucerase improves height, and significantly improves the quality of life, particularly in patients with bone disease. [gaucherdiseasenews.com]

Consequently intra-Mo imiglucerase uptake appears to be variable, suggesting for the first time a possible relation between Glc activity in cell compartments, phenotype and clinical efficacy. [bloodjournal.org]

(by MedDRA Preferred Term) Number (%) of patients Number (%) of patients All events 15 (24.6%) 7 (21.9%) Bone events Bone infarction 1 (1.6%) - Hand fracture 1 (1.6%) - Hematological events Thrombocytopenia 3 (4.9%) 1 (3.1%) Pancytopenia 1 (1.6%) - Epistaxis [ojrd.biomedcentral.com]

After 2 years of combined miglustat (200 mg, 3 t.i.d.) and imiglucerase (60 IU/kg every 2 weeks), generalized tonic-clonic seizures decreased, speech improved, and the general neurologic clinical picture improved markedly. [ncbi.nlm.nih.gov]

In an adult type 3 GD patient who, despite good visceral and analytic response to ERT, developed progressive neurologic deterioration with marked myoclonic epilepsy and dystonia, we added miglustat to the enzyme-replacement therapy. [ncbi.nlm.nih.gov]

platelets and/or hemoglobin decrease) and visceral events (e.g. liver and/or spleen volume increase). [ojrd.biomedcentral.com]

CONCLUSION: ERT reversed the visceromegaly and hematologic abnormalities of Gaucher disease and improved the patient's quality of life. [ncbi.nlm.nih.gov]