Hereditary neurovisceral mannosidosis associated with?-mannosidase deficiency in a family of Persian cats

Abstract

Several kittens in a family of Persian cats had a metabolic storage disease. Clinically the disorder was characterized by hepatomegaly, neurological sings and early death. The microscopic lesions consisted of widespread vacuolation of neurons and glial cells in the central nervous system and in liver cells. Electronmicroscopically the lesions consisted of intracytoplasmic accumulation of membrane-bound “empty” vacuoles. In addition to the storage disease, poor myelination of the cerebral white matter was found. The defect was reproduced in breeding trials. On biochemical analysis of brain tissue, deficient function of the enzymeα-mannosidase was detected. The clinical and pathological features of mannosidosis in Persian cats were compared to similar defects in other species.