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Title: Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.
Authors: Torralba, M A
Olivera, S
Bureo, J C
Dalmau, J
Nuñez, R
León, P
Villarrubia, J
metadata.dc.subject.mesh: Adolescent
Bone Density
Bone Diseases
Child, Preschool
DNA Copy Number Variations
Gaucher Disease
Gene Duplication
Genetic Testing
Lumbar Vertebrae
Middle Aged
Organ Size
Sequence Deletion
Severity of Illness Index
Young Adult
Issue Date: 19-Jan-2016
Abstract: Gaucher disease (GD) is an autosomal recessive disorder produced by mutations in the glucocerebrosidase gene (GBA), causing storage of glucosylceramide in reticuloendothelial cells in multiple organs. Traditionally, the prediction of the phenotype based on the genotype has been reported to be limited. We investigated the correlation between the enzymatic residual activity (ERA) and the phenotype at diagnosis of the disease in 45 GD Spanish patients (44 with type I and 1 with type III GD). The genotype involved two of the following previously expressed proteins: c.517A > C (T134P), 1%; c.721G > A (G202R), 17%; c.1090G > T (G325W), 13.9%; c.1208G > A (S364N), 4.1%; c.1226A > G (N370S), 17.8%; c.1246G > A (G377S), 17.6%; c.1289C > T (P391L), 8.5%; c.1448T > C (L444P), 3%; and c.1504C > T (R463C), 24.5%. Recombinant alleles, deletion of 55 bp in exon 9 and 84GG mutation were considered as mutations with no residual enzymatic activity. The ERA showed a statistically significant correlation with chitotriosidase (P  This study data allowed us to define a new criterion for prognostic assessment of the disease at diagnosis, called Protein Severity Index, which expresses the theoretical severity of the genotype presented by patients, according to the corresponding ERA.
metadata.dc.identifier.doi: 10.1093/qjmed/hcw002
Appears in Collections:Producción 2020

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