Gaucher disease is the most common lysosomal storage disorder caused by deficiency of the lysosom... more Gaucher disease is the most common lysosomal storage disorder caused by deficiency of the lysosomal enzyme glucocerebrosidase. By the end of 2006, the total enrollment in the international Gaucher Disease Registry included 4584 patients, 34 of them were Hungarian. The disease has three main types: non neuronopathic (Type 1), acut neuronopathic (Type 2), and chronic neuronopathic (Type 3). The non-neuronopathic type has the highest prevalence and also the greatest variability. The first symptoms occur before 10 years of age in more than 50% of the patients. Early onset of the clinical symptoms and signs predispose patients to severe phenotype and irreversible complications. Safe and efficient enzyme substitution therapy has been available from 1991 and applied since 1992 in Hungary. Optimal dose and early therapy are effective in stopping disease progression, leading to the regression of visceral and haematological abnormalities, preventing irreversible bone deformities, and providin...
Gaucher disease is the most common lysosomal storage disorder caused by deficiency of the lysosom... more Gaucher disease is the most common lysosomal storage disorder caused by deficiency of the lysosomal enzyme glucocerebrosidase. By the end of 2006, the total enrollment in the international Gaucher Disease Registry included 4584 patients, 34 of them were Hungarian. The disease has three main types: non neuronopathic (Type 1), acut neuronopathic (Type 2), and chronic neuronopathic (Type 3). The non-neuronopathic type has the highest prevalence and also the greatest variability. The first symptoms occur before 10 years of age in more than 50% of the patients. Early onset of the clinical symptoms and signs predispose patients to severe phenotype and irreversible complications. Safe and efficient enzyme substitution therapy has been available from 1991 and applied since 1992 in Hungary. Optimal dose and early therapy are effective in stopping disease progression, leading to the regression of visceral and haematological abnormalities, preventing irreversible bone deformities, and providin...
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