Gaucher Disease: New Expanded Classification Emphasizing Neurological Features
Iranian Journal of Child Neurology,
Vol. 13 No. 1 (2019),
1 January 2019
,
Page 7-24
https://doi.org/10.22037/ijcn.v13i1.21757
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.
Keywords: Gaucher disease; Neurological manifestations; Phenotypes
- Neurological symptom
- Gaucher type 1
- Gaucher type 2
- Gaucher type 3
- Glucocerebroside
How to Cite
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