Mannosidosis: Detection of the disease and of heterozygotes using serum and leucocytes

Masson, P; Lundblad, Arne; Autio, S.

doi:10.1016/0006-291x(74)90841-9

Cited by 35 publications

(25 citation statements)

References 11 publications

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“…8) and electrophoresis on cellulose acetate gels ( Fig. 9) in agreement with previously reported findings (9,10,29,37,38,40). Two isozymes, a-mannosidases A and B, had optimal activities at pH 4.4 and the third isozyme, a-mannosidase C, had an optimum at pH 6.5.…”

Section: Effect O F D H and Substratesupporting

confidence: 92%

“…total a-mannosidase activities in leukocytes and liver extracts from normal individuals revealed an optimum of pH 4.4 in both sources, in agreement with previously reported values (3,20,29,37). In contrast, a marked deficiency of activity at pH 3.5-5.0 was observed in these sources from homozygote 1 with mannosidosis.…”

Section: Effect O F D H and Substratesupporting

confidence: 91%

“…In each enzyme source from the homozygotes, there was a marked deficiency of a-mannosidase activity at pH 4.4, whereas the activity at pH 6.0 was normal, with the exception of leukocytes, which demonstrated reduced neutral activities (29). The levels of acidic and neutral enzymatic activities obtained for the obligate heterozygotes were within the normal range; their ratios of acidic a-mannosidase activity to total P-hexosaminidase activity at pH 4.4 in plasma and leukocytes from the parents of homozygotes 1-5 were within the respective ranges calculated for normal individuals and did not discriminate the heterozygous state (29). The arylsulfatase A, a-L-fucosidase, a-and 6-galactosidase, P-glucuronidase, P-hexosaminidase A and B, and a-L-iduronidase activities in leukocytes and cultured skin fibroblasts from the homozygotes with mannosidosis were all within normal control ranges.…”

Section: Resultsmentioning

confidence: 94%

“…Even when the ratio of a-mannosidase to total a-hexosaminidase activities at DH 4.4 is calculated, the values do not always discriminate heterozygotes as previously suggested (29). Thus, multiple determinations of acidic a-mannosidase activity in several different sources may be required for heterozygote identification.…”

Section: Effect O F D H and Substratementioning

confidence: 86%

“…The primary metabolic defect responsible for these manifestations is the deficiency of the acidic a-mannosidase A and B activities (a-D-mannoside mannohydrolase, EC. 3.2.1.24) (9,29,35), which results in the lysosomal accumulation of mannose-rich oligosaccharides in neural (34) and visceral tissues (I, 33) and in the urine (1, 31, 32, 46) of affected homozygous patients. Presumably this enzymatic defect also leads to the accumulation of other pathogenic glycoconjugate substrates with terminal a-mannosyl residues as evidenced by the recent finding of abnormal glycopeptides, rich in mannose, in cultured skin fibroblasts from a homozygote with mannosid?sis (47).…”

Section: Speculationmentioning

confidence: 99%

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Mannosidosis: Clinical, Morphologic, Immunologic, and Biochemical Studies

et al. 1976

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Section: Effect O F D H and Substratesupporting

confidence: 92%

Section: Effect O F D H and Substratesupporting

confidence: 91%

Section: Resultsmentioning

confidence: 94%

Section: Effect O F D H and Substratementioning

confidence: 86%

Section: Speculationmentioning

confidence: 99%

See 3 more Smart Citations

Mannosidosis: Clinical, Morphologic, Immunologic, and Biochemical Studies

et al. 1976

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Mannosidosis

Kistler¹,

Lott²,

Kolodny³

et al. 1977

Arch Neurol

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Mannosidosis is a rare inborn error of metabolism characterized by deficiency of the lysosomal enzyme alpha-mannosidase and widespread storage of complex carbohydrate, which is enriched in mannose. Two affected unrelated males, aged 6 and 26 years, are reported. Both had a nonprogressive encephalopathy with moderately severe mental retardation. The older patient showed several unique features, including massive gingival hyperplasia associated with histiocytes containing large amounts of a material with the staining characteristics of glycoprotein. The best determinant of mannose storage proved to be the ratio of mannose to other carbohydrates in urinary polysaccharides. The enzyme deficiency in this disease is most convincingly demonstrated at pH values below 4.0. The ability of zinc to activate the mutant enzyme in vitro offers a possible mode of therapy for this disease. Retarded individuals with a Hurler-like appearance and gum hyperplasia of unknown cause should be screened for alpha-mannosidase deficiency.

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Determination of a mannose-containing trisaccharide in the urine of patients and heterozygotes of mannosidosis

Lundblad

Masson

Nordén

et al. 1975

Biol. Mass Spectrom.

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Abstract-A method employing gas-liquid chromatography and combined gas-liquid chromatography mass spectrometry was developed for the quantitative determination of a-u-mannopyranoside-(1 + 3)-[j-~-mannopyranoside-( 1 --t 4)-2-acetamido-2-deoxy-~-glucose in urines. The concentration of this trisaccharide varied between 123 and 469 mg per litre of urine in the patients with mannosidosis but was not detected in twenty normals and two heterozygotes.

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Mannosidosis: Detection of the disease and of heterozygotes using serum and leucocytes

Cited by 35 publications

References 11 publications

Mannosidosis: Clinical, Morphologic, Immunologic, and Biochemical Studies

Mannosidosis: Clinical, Morphologic, Immunologic, and Biochemical Studies

Mannosidosis

Determination of a mannose-containing trisaccharide in the urine of patients and heterozygotes of mannosidosis

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