La maladie de Hurler: Ã propos de 30 cas

Mucopolysaccharidosis type I (or Hurler disease) and its milder forms (Scheie and Hurler-Scheie syndromes) are lysosomal storage diseases with recessive autosomal genetic transmission. They are related to the deficiency on an enzyme, alpha-L-iduronidase, responsible for the accumulation in the lysosomes of different tissues of the body of two mucopolysaccharides, dermatan sulfate (DS) and heparan sulfate (HS), causing multi-systemic manifestations. The aim of our study is to diagnose biologically Hurler's syndrome by the demonstration of deficient alpha-L-iduronidase in patients tested positive by the DMM blue test and electrophoresis. Our study was conducted on a cohort of 30 children. Of the 30 patients, 67% showed zero or low alpha-L-iduronidase activity, with an average of 2.96 ± 2.57 nmol/h/mg protein.