Impaired neutrophil chemotaxis in two patients with mucolipidosis II.

Abstract

Mucolipidosis I1 (ML 11) is a rare autosomal recessive disorder characterized by coarse facial features, gingival hyperplasia, joint stiffness, skeletal abnormalities and psychomotor retardation. Hasilik e t al. (1) and Reitman et al. (2) found that N-acetyl-glucosaminylphosphotransferase activity was deficient in patients with ML 11. Recently, we have demonstrated that the deficiency of N-acetylglucosaminylphosphotransferase activity is easily detectable by using commercially obtainable UDP-N-ace ty l -~[U-~~c] glucosamine and a-methylmannoside (3). Patients with ML I1 are susceptible to infection, and most of them die between the ages of 3 and 8. Presently, there are only a few reports about immunological functions in patients with ML I1 (4, 5, 6). Neutrophil functions have not yet been investigated in patients with ML 11. In this study, we examined the immunological as well as neutrophil functions in two girls with ML 11.