May 1, 1976

Mannosidosis: phenotype of a severely affected child and characterization of alpha-mannosidase activity in cultured fibroblasts from the patient and his parents

The Journal of Pediatrics
A S AylsworthG H Thomas

Abstract

A three-year-old boy has coarse facial features, upper respiratory congestion, profound mental retardation, hepatosplenomegaly, increased height and head circumference, cataracts, a gibbus deformity, radiographic changes of dysostosis multiplex, and vacuolized peripheral lymphocytes. These findings are the most commonly reported clinical features in the previously described patients with mannosidosis. Our patient has a severe deficiency, and his parents have intermediate levels, of the acidic component of alpha-mannosidase in their cultured fibroblasts.

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Citations

Mentioned in this Paper

Cataract
Dykes Markes Harper Syndrome
Specimen Type - Fibroblasts
Glycosaminoglycans
Lymphocytes as Percentage of Blood Leukocytes (Lab Test)
Hepatosplenomegaly
Face
Disaccharidases
Malnutrition
Lysosomes

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