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2011, Number 1

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Acta Pediatr Mex 2011; 32 (1)

Genotype and phenotype relationship of Gaucher disease in Mexican patients. Comparative study

Carbajal-Rodríguez L, Voirol-García A, Mora-Magaña I

Language: Spanish
References: 39
Page: 38-45
PDF size: 283.50 Kb.


ABSTRACT

Introduction. Gaucher disease (GD) is an heterogenous shingolipid condition due to mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GC) responsible for intracellular hydrolysis of glucosylceramide with deposit of D-glucosylceramide fagocitic of the cells mononuclear system or saporsina C (SAP C). The gene is in chromosome 1 (q21-31). Its deficiency produces 3 types: I nonneuronophatic, II or acute neuronophatic, III or suacute neuronopathic.
Objective. To show the genotype and phenotype relationship in Mexican patients with GD.
Material and Methods. Retrospective, comparative, longitudinal study from 1983 to 2006 in 63 patients; 31 females (49%), 32 men /51%). All the patients showed N370S and L444P mutations in the homozygous or heterozygous state. N370S, 6 homozygous (9.5%) and 37 heterozygous (58.7%); L444P, 6 hoymozygous (9.5%) and 14 heterozygous (22.2$). Type I, N370S, 6 alleles homozygous and 42 heterozygous; type III, homozygous L444P, sin and 2 heterozygous.
Conclusions. Our findings in Mexican patients do not differ from those reported in the literature of other countries.


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