This phenotype was confirmed by elevated urinary GAGs (HS 121.9 mg/mMol creatinine, nv < 4.6; DS 80.0 mg/mMol creatinine, nv < 38.1); genetic analysis of the IDUA gene revealed compound heterozygosity for two known pathogenic mutations (c.46–57del12/p.Y201X) consistent with Hurler syndrome. This evidence concerns the gene IDUA and Hurler syndrome.