The effect of enzyme therapy in a patient with Gaucher disease type III

1996 ◽  
Vol 19 (5) ◽  
pp. 703-704
Author(s):  
D. K. Bosman ◽  
C. E. M. Hollak ◽  
J. M. F. G. Aerts ◽  
H. D. Bakker
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Enzyme Therapy ◽  
Type Iii

Clinical, biochemical and histopathological effects of 11 years of enzyme therapy in Gaucher disease type III: Unexpected CNS vascular and cellular manifestations

2014 ◽  
Vol 111 (2) ◽  
pp. S102-S103
Author(s):  
Ying Sun ◽  
Andrew T. Burrow ◽  
Wujuan Zhang ◽  
David P. Witte ◽  
Kenneth D.R. Setchell ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Enzyme Therapy ◽  
Type Iii ◽  
Histopathological Effects

Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia

2011 ◽  
Vol 53 (6) ◽  
pp. 1018-1022 ◽  
Author(s):  
Majda Benedik-Dolničar ◽  
Lidija Kitanovski
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Enzyme Therapy ◽  
Gaucher Disease Type 1

Gaucher disease (type III): Intellectual profile

1987 ◽  
Vol 3 (2) ◽  
pp. 87-91 ◽  
Author(s):  
Anders Erikson ◽  
Johan Karlberg ◽  
Anna-Lena Skogman ◽  
Sten Dreborg
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Type Iii

scholarly journals Enzyme Therapy in Gaucher Disease Type 1: Effect of Neutralizing Antibodies to Acid β-Glucosidase

Blood ◽  
1997 ◽  
Vol 90 (1) ◽  
pp. 43-48 ◽  
Author(s):  
Elvira Ponce ◽  
Jay Moskovitz ◽  
Gregory Grabowski
Keyword(s):  
Disease Progression ◽  
Gaucher Disease ◽  
Neutralizing Antibodies ◽  
Disease Type ◽  
High Dose ◽  
Enzyme Therapy ◽  
Lysosomal Storage ◽  
Gaucher Disease Type 1

Abstract Gaucher disease type 1, a non-neuronopathic lysosomal storage disease, is caused by mutations at the acid β-glucosidase locus. Periodic infusions of macrophage-targeted acid β-glucosidase reverse hepatosplenomegaly, hematologic, and bony findings in many patients. Two patients receiving enzyme therapy developed neutralizing antibodies to acid β-glucosidase that were associated with a lack of improvement or progressive disease. After initial improvement, case 1 had no additional response to 2 years of high-dose (50 U/kg every 2 weeks) enzyme therapy. Similarly, case 2 initially showed a favorable response to enzyme therapy that plateaued after 1 year of treatment. Both patients developed minor allergic reactions and antibodies to acid β-glucosidase within the first 6 months of treatment. Enzyme therapy was discontinued in case 1, with resultant disease progression and need for splenectomy. An immunosuppression/tolerization protocol was initiated in case 2 because of disease progression and stable neutralizing antibody titers. The IgG neutralizing antibodies rapidly and completely inactivated the wild-type, but not the N370S, acid β-glucosidase in vitro. Antibodies to human serum albumin and chorionic gonadotropin also developed. The finding of neutralizing antibodies to acid β-glucosidase during enzyme therapy for Gaucher disease has significant implications for monitoring the therapeutic responses and for potential alternative future therapies for Gaucher disease.

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

2008 ◽  
Vol 31 (6) ◽  
pp. 745-752 ◽  
Author(s):  
J. Cox-Brinkman ◽  
M. J. van Breemen ◽  
B. T. van Maldegem ◽  
L. Bour ◽  
W. E. Donker ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Substrate Reduction Therapy ◽  
Type Iii ◽  
Enzyme Replacement ◽  
Substrate Reduction ◽  
Potential Efficacy

No justification for very high-dose enzyme therapy for patients with type III Gaucher disease

2007 ◽  
Vol 30 (6) ◽  
pp. 843-844 ◽  
Author(s):  
Ari Zimran ◽  
Deborah Elstein
Keyword(s):  
Gaucher Disease ◽  
High Dose ◽  
Enzyme Therapy ◽  
Type Iii ◽  
Very High

scholarly journals Enzyme Therapy in Gaucher Disease Type 1: Effect of Neutralizing Antibodies to Acid β-Glucosidase

Blood ◽  
1997 ◽  
Vol 90 (1) ◽  
pp. 43-48 ◽  
Author(s):  
Elvira Ponce ◽  
Jay Moskovitz ◽  
Gregory Grabowski
Keyword(s):  
Disease Progression ◽  
Gaucher Disease ◽  
Neutralizing Antibodies ◽  
Disease Type ◽  
High Dose ◽  
Enzyme Therapy ◽  
Lysosomal Storage ◽  
Gaucher Disease Type 1

Gaucher disease type 1, a non-neuronopathic lysosomal storage disease, is caused by mutations at the acid β-glucosidase locus. Periodic infusions of macrophage-targeted acid β-glucosidase reverse hepatosplenomegaly, hematologic, and bony findings in many patients. Two patients receiving enzyme therapy developed neutralizing antibodies to acid β-glucosidase that were associated with a lack of improvement or progressive disease. After initial improvement, case 1 had no additional response to 2 years of high-dose (50 U/kg every 2 weeks) enzyme therapy. Similarly, case 2 initially showed a favorable response to enzyme therapy that plateaued after 1 year of treatment. Both patients developed minor allergic reactions and antibodies to acid β-glucosidase within the first 6 months of treatment. Enzyme therapy was discontinued in case 1, with resultant disease progression and need for splenectomy. An immunosuppression/tolerization protocol was initiated in case 2 because of disease progression and stable neutralizing antibody titers. The IgG neutralizing antibodies rapidly and completely inactivated the wild-type, but not the N370S, acid β-glucosidase in vitro. Antibodies to human serum albumin and chorionic gonadotropin also developed. The finding of neutralizing antibodies to acid β-glucosidase during enzyme therapy for Gaucher disease has significant implications for monitoring the therapeutic responses and for potential alternative future therapies for Gaucher disease.

P319 Gaucher disease type III with craniosynosteosis

2009 ◽  
Vol 13 ◽  
pp. S120
Author(s):  
D.I. Zafeiriou ◽  
E. Vargiami ◽  
A. Anastasiou ◽  
A. Ververi ◽  
E. Michelakaki ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Type Iii

scholarly journals Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III

2013 ◽  
pp. 37-42
Author(s):  
Divair Doneda ◽  
Filippo P. Vairo ◽  
André L. Lopes ◽  
Álvaro Reischak-Oliveira ◽  
Pedro Schestatsky ◽  
...  
Keyword(s):  
Nutritional Status ◽  
Metabolic Rate ◽  
Basal Metabolic Rate ◽  
Gaucher Disease ◽  
Disease Type ◽  
Type Iii

Skeletal manifestations of children with Gaucher disease type I and type III

2015 ◽  
Vol 114 (2) ◽  
pp. S128
Author(s):  
Aysel Yuce ◽  
Hayriye Hizarcioglu-Gulsen ◽  
Hulya Demir ◽  
Serap Dokmeci Emre ◽  
Figen Gurakan
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Type I ◽  
Type Iii
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