Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.

• Wilmer Delgado University of Zulia. Maracaibo-Venezuela.
• Luis Miranda University of Zulia. Maracaibo-Venezuela.
• Carlos Chávez University of Zulia. Maracaibo-Venezuela.
• Ernesto Solis University of Zulia. Maracaibo-Venezuela.
• Francisco Cammarata University of The Andes. Mérida-Venezuela

Palabras clave: Scheie syndrome, IDUA, c.1190-1delG/N, c.1708G>C/N

Resumen

Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes catalyzing the degradation of glycosaminoglycans. Mucopoly-saccharidosis I can present a wide range of phenotypic characteristics with three major recognized clinical entities: Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression. These are caused by the deficiency or absence of _-L-iduronidase, essential to the metabolism of both dermatan and heparan sulfate, and it is encoded by the IDUA gene. We report the case of a 34-year-old male patient with enzymatic deficiency of a-L-iduronidase, accumulation of its substrate and a previously unreported mutation in the IDUA gene that developed a phenotype of Scheie syndrome.