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2012, Number 1

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Acta Pediatr Mex 2012; 33 (1)

Enzyme replacement therapy in a patient with type III Gaucher disease

Carbajal-Rodríguez L, Gómez-González MF, Rodríguez-Herrera R, Zarco-Román J, Mora-Tiscareño MA

Language: Spanish
References: 38
Page: 9-19
PDF size: 605.75 Kb.


ABSTRACT

Gaucher disease (EG) is a heterogeneous sphingolipidoses due to mutations in the gene that encodes the lysosomal enzyme glucocerebrosidase responsive for hydrolysis of glucosylceramide deposit with this in mononuclear phagocytes.
There are 3 types of disease: I form of adult or not neuronopathic; II acute neuronopathic or infantile form;III neuronophatic subacute or juvenile form (Subtypes a, b, c).
Since 1991 enzyme replacement therapy has decreased mobility and mortality. Presentation type I respond well not the answer type II –response to type III is incomplete without evidence there is even better neurological injury may be used to attenuate the visceral injury and bone. We report the case of patient who presents with EG type III and treated with enzyme replacement moderately satisfactory answer to the present time especially in the area neurologist.


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