• Laura López de Frutos, Pilar Alfonso, Carlos Lahoz, Pilar Irún, and Pilar Giraldo.
• Instituto de Investigación Sanitaria Aragón (IIS Aragón), Zaragoza, Spain; Fundación para el Estudio y la Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), Zaragoza, Spain. Electronic address: llopezdefrutos.uit@gmail.com.
• Med Clin (Barc). 2020 Dec 24; 155 (12): 529-534.

BackgroundCytochrome p450 is the main drug metabolic pathway. CYP2D6 is a highly polymorphic gene that encodes a cytochrome p450 enzyme with three activity levels: null, reduced and normal. Apart from another type of mutations CYP2D6 can suffer duplications and deletions of the entire gene. This is the pathway to metabolize one of the Gaucher disease treatments, whose dose administration is regulated according to the metabolizer phenotype, this being one of the administration limitations.ObjectivesThe aim of this paper is to evaluate the allelic frequencies and the metabolizer status of Gaucher type 1 patients in the Spanish population and compare it with the general Spanish population and other Gaucher disease groups.MethodsIn this study, 109 type 1 Gaucher disease patients were analyzed with the xTAG®CYP2D6 kit to identify the CYP2D6 gene alleles.ResultsWe observed that eighty-seven patients could be classified as extensive, 14 as intermediate, 6 as poor and 2 as ultra-rapid metabolizers. The allelic duplication frequency is 5.5% and deletion is 4.5%. The most common allele is wild-type and the second is the null *4 allele. Intermediate phenotype frequency is higher than expected (p<0.05).ConclusionsOur Spanish GD series shows an unexpected distribution of some alleles and phenotypic metabolizer status, in contrast to that previously reported in the Spanish population.Copyright © 2020 Elsevier España, S.L.U. All rights reserved.

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