β‐Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother

Abstract

beta-Mannosidase deficiency was demonstrated in fibroblasts of a girl who showed severe psychomotor retardation, bone deformities and gargoylism and recurrent skin and respiratory infections and who died at 20 years of age from bronchopneumonia. This first demonstration of a female patient confirms the autosomal recessive inheritance of beta-mannosidosis. Further investigation of this gypsy family revealed beta-mannosidosis in an older brother with a milder manifestation of gargoyl facial dysmorphology, mental retardation, hearing impairment and recurrent infections. beta-Mannosidase activity was completely deficient in his cultured skin fibroblasts, leukocytes and plasma. In urine a characteristic disaccharide was present. Heterozygote levels of beta-mannosidase were found in fibroblasts and/or plasma of the parents and one sister.

Novel synthesis of mannosamine conjugated magnetic nanoparticles for purification and stabilization of human lysosomal β-mannosidase

“…β-mannosidosis cases have been identified and characterized in goat [16], bovine [17,18], as well as in humans [19][20][21]. The disease is rare in human and is globally widespread [20,22,23]. The pathological characters of Nubain goat and salers calves suffering from β-mannosidosis are dom shaped skulls, facial dysmorphism, abnormal joints, marked intention tremor, muscle weakness, deafness, and inability to stand [17,18,24].…”

Bovine Plasma β-Mannosidase Activity and Its Potential use for β-Mannosidosis Carrier Detection

“…1,17,19,20,[22][23][24] The Manßl-4G1cNAc disaccharide is the main uncatabolized substrate in humans. 6,7,21,28 The disease is clinically and biochemically quite different from α−mannosidosis that is described in Angus, Murray Grey, and Galloway cattle. 16 Heterozygote detection would facilitate a rational breeding program to restrict the incidence of this disease.…”

“…ß-mannosidosis is an autosomal recessive defect of glycoprotein catabolism that has been reported in goats, 11,18,19 human 5,6,7,21,28 and, most recently, Salers cattle [1][2][3]13,25 From birth, affected Salers calves are unable to rise and have a characteristic appearance consisting of a slightly domed head, slight protrusion of the lower jaw, narrow eye openings, and abundant purplish gums. Handling of these calves reveals skin that seems tightly adhered to the body.…”

“…Mental retardation and deafness are the most characteristic features. 6,7,21,28 Birth of affected calves has been reported in at least 4 states in the United States as well as in Canada and New Zealand. The American Salers Association has estimated that of 20,000 calves born in 1990, approximately 10 calves were positively diagnosed as having ß-mannosidosis.…”

Angiokeratoma corporis diffusum in human β-mannosidosis: Report of a new case and a novel mutation

“…3,4 Since then, only 18 patients belonging to 14 families have been reported. [3][4][5][6][7][8][9][10][11][12][13][14][15][16] Unlike the presentation of the condition in animals, the human disorder is generally milder and has variable clinical manifestations. The most consistent clinical finding in human patients is mental retardation.…”