Early diagnosis of hypermucopolysacchariduria

Abstract

Urinary excretion of acid mucopolysaccharides was determined in seven children with Hurler's disease and in 1000 apparently normal children using a simple turbidity method. All the seven patients with Hurler's syndrome gave values of mucopolysaccharides which were considerably higher than those obtained in the control groups. In the screening test, 32 children with various diseases showed a marked increase in mucopolysaccharides excretion. It must be emphasized that one of those children —aged 1 month at the time of the analysis—was diagnosed later on as a new case of Hurler's syndrome.