Advertisement

 

 

Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.

Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
Author Information (click to view)

Bulut FD, Kör D, Şeker-Yılmaz B, Hergüner Ö, Ceylaner S, Özkınay F, Kılavuz S, Önenli-Mungan N,


Bulut FD, Kör D, Şeker-Yılmaz B, Hergüner Ö, Ceylaner S, Özkınay F, Kılavuz S, Önenli-Mungan N, (click to view)

Bulut FD, Kör D, Şeker-Yılmaz B, Hergüner Ö, Ceylaner S, Özkınay F, Kılavuz S, Önenli-Mungan N,

Advertisement

Metabolic brain disease 2018 04 14() doi 10.1007/s11011-018-0236-0
Abstract

Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease. Neurological involvement accompanies visceral and haematological findings only in type II and type III Gaucher patients. Type II is the acute progressive neuronopathic form which is the most severe and rare subtype. Clinical findings are recognized prenatally or in the first months of life and followed by death within the first two years of age. Among our 81 Gaucher patients, we identified 4 (4,9%) type II patients in our metabolic centre. This rate is significantly higher than the rate reported in the literature (<1%). Three of the patients had novel mutations, one of them was a collodion baby and the other one was mistyped as type III due to its atypical presentation at the beginning and he was treated with ERT for 8 months. In this report, we present our type II Gaucher patients with three novel mutations and one perinatal lethal form with generalized ichthyosis which is a very rare disorder. Additionally, we would like to highlight the phenotypic heterogeneity not only between the subtypes, also even in the same type.

Submit a Comment

Your email address will not be published. Required fields are marked *

13 − 13 =

[ HIDE/SHOW ]