RESUMO

The patient is a 24-year-old woman who first came for consultation at age 10 years. Based on clinical phenotype and thin-layer chromatography of urinary oligosaccharides, peripheral leukocytes were sent for beta-galactosidase assay. This testing showed a deficiency in enzyme activity, and gene mutation analysis identified a previously reported mutation p.H281Y (875C > T) and a novel mutation p.W273R (817T > C). Unlike previously reported patients, mutant enzymes in this patient's cultured skin fibroblasts did not respond to treatment with a chaperone compound, N-octyl-4-epi-beta-valienamine.

Assuntos

Mucopolissacaridose IV/enzimologia , Mucopolissacaridose IV/genética , beta-Galactosidase/deficiência , beta-Galactosidase/genética , Adulto , Substituição de Aminoácidos , Feminino , Fibroblastos/efeitos dos fármacos , Fibroblastos/enzimologia , Hexosaminas/farmacologia , Humanos , Técnicas In Vitro , Mucopolissacaridose IV/patologia , Fenótipo , Mutação Puntual , Pele/efeitos dos fármacos , Pele/enzimologia