Synonym(s)
Mannosidosis
HistoryThis section has been translated automatically.
Wenger, 1986
DefinitionThis section has been translated automatically.
Very rare, hereditary storage disease due to the absence of the lysosomal enzyme beta-mannosidase.
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EtiopathogenesisThis section has been translated automatically.
Autosomal recessive mutation of the ß-mannosidase gene (gene locus: 4q22-25) causing the almost complete absence of the enzyme ß-mannosidase.
Clinical featuresThis section has been translated automatically.
Angiokeratomas, infection tendency (pyoderma), mental retardation, hearing loss, facial dysmorphia, skeletal deformities, hepatospelonomegaly.
LaboratoryThis section has been translated automatically.
Decrease of the ß-mannosidosis level in serum. Excessive excretion of mannosyl(1-4)-N-acetylglucosamine and heparan sulfate in urine is detectable.
Differential diagnosisThis section has been translated automatically.
TherapyThis section has been translated automatically.
Not yet known. S.u. Angiokeratoma corporis diffusum.
LiteratureThis section has been translated automatically.
- Uchino Y et al (2003) Morphological and biochemical studies of human ß-mannosidosis: indentification of a novel ß-mannosidase gene mutation. Br J Dermatol 149: 23-29
- Wenger D et al (1986) Human ß-mannosidase deficiency. New Engl J Med 315: 1201-1205
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Outgoing links (5)
Angiokeratomas (overview); Fabry's disease; Fucosidosis; Gaucher's disease; Kanzaki, m.;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer