β‐Mannosidosis: Prenatal biochemical and morphological characteristics

Abstract

Caprine beta-mannosidosis, an autosomal recessive disorder of glycoprotein catabolism, as yet undetected in man, was expressed in a 96/150 day gestation goat fetus. Deficiency of plasma, kidney, brain, liver and skin fibroblast acidic beta-mannosidase activity was associated with the accumulation of tissue oligosaccharides. Characteristic lucent cytoplasmic lysosomal storage vacuoles were present in the brain, thyroid, kidney and other tissues. Axonal spheroids were present in the central nervous system. The biochemical and morphological prenatal expressions of beta-mannosidosis which were documented by this investigation may facilitate the identification of the disease in man.

β‐Mannosidase in human leukocytes and fibroblasts

“…Our assay conditions allowed the detection of ]3-mannosidase deficiency in the goat. Fibroblasts from an affected goat showed a clear deficiency (Table 1), confirming the results of Jones et al (1984). It is remarkable that 13-mannosidase activity in both fibroblasts and leukocytes of human origin is more than ten-fold higher.…”

Goat Liver ß-Mannosidases: Molecular Properties, Inhibition and Inactivation of the Lysosomal and Nonlysosomal Forms

“…ß-Mannosidase activity was measured using 4-methylumbelliferyl-ß-Z)-mannopyranoside as pre viously described [21], except where noted. Protein was determined by the method of Lowry et al [22] using human albumin as a standard.…”

β‐mannosidosis: Prenatal detection of caprine allantoic fluid oligosaccharides with thin layer, gel permeation and high performance liquid chromatography

“…Age-matched twin male fetuses (V86, V87) were obtained from normal (non-carrier) parents to serve as MS received 26.4.85 Accepted 1.8.85 controls. V83 and V86, both males, were used in this investigation after studies of the [3-mannosidase activities in plasma, kidney, liver, brain, and skin fibroblasts revealed that V83 was affected and V86 was normal (Jones et al, 1984).…”

“…This disease is characterized by a deficiency of [3-mannosidase activity in plasma (Healy et al, 1981;Cavanagh et al, 1982;Jones et al, 1984), tissue (Healy et al, 1981;Jones and Dawson, 1981) and skin fibroblasts (Jones et al, 1984) and by the tissue accumulation (Jones and Laine, 1981;Matsuura et al, 1981a) and urinary excretion (Matsuura et al, 1983) of oligosaccharides. Previous studies have revealed that [3-mannosidase deficiency is accompanied by the accumulation of the disaccharide, [3-mannosyl-(1-4)-N-acetylglucosamine (DS) and the trisaccharide, t3-mannosyl-[3-(1-4)-N-acetylglucosaminyl-(1-4)-N-acetylglucosamine (TS), in the tissues of affected prenatal (Jones et al, 1984) as well as neonatal Jones et al, 1983) goats. Furthermore, the detection of [5-mannosidase deficiency in the cultured skin fibroblasts of an affected fetus suggested the feasibility of prenatal detection of [~-mannosidosis (Jones et al, 1984), a disease not yet identified in man.…”

“…Previous studies have revealed that [3-mannosidase deficiency is accompanied by the accumulation of the disaccharide, [3-mannosyl-(1-4)-N-acetylglucosamine (DS) and the trisaccharide, t3-mannosyl-[3-(1-4)-N-acetylglucosaminyl-(1-4)-N-acetylglucosamine (TS), in the tissues of affected prenatal (Jones et al, 1984) as well as neonatal Jones et al, 1983) goats. Furthermore, the detection of [5-mannosidase deficiency in the cultured skin fibroblasts of an affected fetus suggested the feasibility of prenatal detection of [~-mannosidosis (Jones et al, 1984), a disease not yet identified in man. In this investigation allantoic fluid oligosaccharide composition was determined, using allantoic fluid obtained from an affected fetus and a control fetus, in order to assess the nature and extent of fetal excretion of oligosaccharides and to augment prenatal detection of [3-mannosidosis.…”