Author/Authors :
ALAEI, Mohammad Reza Pediatric Endocrinology - Faculty of Medicine - Shahid Beheshti University of Medical Sciences, Tehran , TABRIZI, Aydin Pediatric Neurology Research Center - Research Institute for Children’s Health - Shahid Beheshti University of Medical Sciences, Tehran , JAFARI, Narjes Pediatric Neurology Research Center - Research Institute for Children’s Health - Shahid Beheshti University of Medical Sciences, Tehran , MOZAFARI, Hadi Pediatric Biochemistry - Medical school - Kermanshah University of Medical Sciences, Kermanshah
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.
