MANNOSIDOSIS - A CLINICAL AND HISTOPATHOLOGIC STUDY

A patient with mannosidosis, a storage disorder which has some clinical resemblance to Hurler's syndrome, is described. The patient died at 4 4/12 years of age. Histologic examination revealed storage phenomena in the nervous system. Biochemical investigation disclosed a deficiency of the enzyme α-mannosidase in the liver. The possible relationship is discussed between the clinical and histologic findings and the enzyme defect, leading to imparied glycoprotein catabolism with storage of oligosaccharide containing mannose and glucosamine (mannoside). © 1969 The C. V. Mosby Company.