Gaucher Disease: New Expanded Classification Emphasizing Neurological Features.

ABSTRACT: Gaucher disease (GD) is a rare inherited metabolic disorder and the most common lysosomal storage disorder, caused by a deficiency in glucocerebrosidase enzyme activity. It has been classified according to the neurological manifestations into three types: type 1, without neuropathic findings, type 2 with acute infantile neuropathic signs and type 3 or chronic neuropathic form. However, report of new variants has led to the expansion of phenotype as a clinical phenotype of GD considered as a continuum of phenotypes. Therefore, it seems that a new classification is needed to cover new forms of the disease.

SUBMITTER: Alaei MR 

PROVIDER: S-EPMC6296697 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature