Mannosidosis in an adult

In 1967 Ockerman described a new generalized storage disorder 'resembling Hurler's syndrome'. An increased amount of a poorly characterized mannose-rich compound was present in the liver. In addition, the patient lacked acidic mannosidase in various tissues. These findings led to the designation 'mannosidosis.' Since then, approximately 50 cases of this disorder have been reported. The clinical expression has varied in severity from death in childhood to individuals with few clinical symptoms. Most of these reports have concerned patients in their first or second decade of life. We now describe one of the oldest known patients with mannosidosis, document his clinical course and review the biochemistry of this lysosomal storage disorder.