Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report.

ABSTRACT:

Background

The variants of neuronopathic Gaucher disease may be viewed as a clinical phenotypic continuum divided into acute and chronic forms. The chronic neuronopathic form of Gaucher disease is characterized by a later onset of neurological symptoms and protracted neurological and visceral involvement. The first-choice treatment for nonneuronopathic Gaucher disease is enzyme replacement therapy with recombinant analogues of the deficient human enzyme glucocerebrosidase. Enzyme replacement therapy has been shown to improve hematological and bone manifestations associated with Gaucher disease, but, as with most proteins, recombinant enzymes cannot cross the blood-brain barrier, which prevents effects on neurological manifestations. Substrate reduction therapy with miglustat (N-but

SUBMITTER: Ceravolo F 

PROVIDER: S-EPMC5248516 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature