Long-term follow-up of biochemical and cognitive functioning in patients with mannosidosis
R. B. Noll, M. L. Netzloff and R. Kulkarni
Department of Pediatrics and Human Development, Michigan State University, East Lansing 48824.
Longitudinal assessments of three brothers with alpha-mannosidosis were
performed biochemically by determining levels of leukocyte enzyme activity,
and neurodevelopmentally by testing of general intelligence, language,
visual spatial skills, and overall adaptive abilities. During the follow-up
examination, enzyme activity was assessed in fibroblasts to evaluate the
uniformity of biochemical deficits. The biochemical findings demonstrated
profound deficits of leukocyte alpha-mannosidase that remained remarkably
stable over time and were very similar to levels of the same enzyme
activity in fibroblasts. The cognitive findings showed that the patients
manifested mild cognitive deficits. Cognitive deficits were generally
uniform with no signs of progressive deterioration, except receptive
language abilities. Suggestions are made for careful follow-up of auditory
abilities in patients with mannosidosis.
