Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots

IDUA eluted from dried blood spots of heterozygotes differs from that of controls in terms of Vmax and thermal stability. These parameters can be used as an important tool for the detection of carriers for MPS I. This is the first report describing a differential behavior of these parameters for a lysosomal enzyme obtained from dried blood.