A Generalised Storage Disorder Resembling Hurler's Syndrome

A New Type of Mucolipidosis with β-Galactosidase Deficiency and Glycopeptiduria

“…During recent years, a group of storage diseases which exhibit signs and symptoms of both sphingolipidoses and mucopolysaccharidoses but cannot be classified into the actually known types of them, have been reported by several workers (Landing et al 1964, Derry et al 1968, Durand et al 1968, Ockerman 1967, Austin et al 1965, Spranger et al 1968, Leroy et al 1969, Maroteaux andLamy 1966). These several disorders have recently been classified as the mucolipidoses by Spranger and Wiedemann (1970).…”

Mannosidosis in angus cattle: Partial characterization of two mannose containing oligosaccharides

“…The disease was inherited as an autosomal recessive and heterozygotes were shown to have less than half the normal level of ~t-mannosidase in plasma. This bovine condition was thus shown to be similar to human mannosidosis which is also associated with a deficiency of,v-mannosidase and accumulation of mannose containing oligosaccharides [3,4] in tissues. The term 'mannosidosis' of Angus cattle was suggested as being preferable to the name 'pseudolipidoses' [2].…”

Recent progress in lysosomal α-mannosidase and its deficiency

“…A deficiency of MANB causes the lysosomal storage disease, α-mannosidosis, which is an autosomal recessive disorder in humans (Ockerman, 1967), cattle (Whittem et al, 1957), domestic cats (Burditt et al, 1980) and guinea pigs (Crawley et al, 1999). The inherited disorder is characterized by massive accumulation of undegraded oligosaccharides, resulting in varied neural, skeletal and immune defects, and extension of the lysosomes in most cell types.…”