Abstract
Mannosidosis, a systemic lysosomal storage disease first described by Ockerman (22), is characterized by psychomotor retardation, a facial dysmorphia resembling that of the Hurler syndrome, dysostosis multiplex, hepatosplenomegaly, hearing loss, recurrent infections and autosomal recessive inheritance. The primary metabolic defect responsible for these manifestations is the deficiency of the acidic α-mannosidase activity (α-D-mannoside mannohydrolase EC 3.2.1.24) (4,19,22) which results in the lysosomal accumulation of mannose-rich oligosaccharides in neural (23) and visceral tissues (1,22) and in the urine (1,20,21,32) of affected homozygous patients. Presumably this enzymatic defect also leads to the accumulation of other glycoconjugate substrates with terminal α-mannosyl residues as evidenced by the recent finding of abnormal glycopeptides, rich in mannose, in cultured skin fibroblasts from a homozygote with mannosidosis (33).
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Desnick, R.J., Walling, L.L., Anderson, P.M., Raman, M.K., Sharp, H.L., Ikonne, J.U. (1976). Mannosidosis: Studies of the α-D-Mannosidase Isozymes in Health and Disease. In: Volk, B.W., Schneck, L. (eds) Current Trends in Sphingolipidoses and Allied Disorders. Advances in Experimental Medicine and Biology, vol 68. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-7735-1_19
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DOI: https://doi.org/10.1007/978-1-4684-7735-1_19
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