Hierfür ist eine Anmeldung erforderlich. Bitte registrieren Sie sich bei uns oder melden Sie sich mit Ihren Zugangsdaten an.
Beta-mannosidosis E77.1
Synonym(s)
Mannosidosis
History
This section has been translated automatically.
Wenger, 1986
Definition
This section has been translated automatically.
Very rare, hereditary storage disease due to the absence of the lysosomal enzyme beta-mannosidase.
You might also be interested in
Etiopathogenesis
This 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.
Clinic
This section has been translated automatically.
Angiokeratomas, infection tendency (pyoderma), mental retardation, hearing loss, facial dysmorphia, skeletal deformities, hepatospelonomegaly.
Laboratory
This 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 diagnosis
This section has been translated automatically.
Therapy
This section has been translated automatically.
Not yet known. S.u. Angiokeratoma corporis diffusum.
Literature
This 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
Recommended articles
Outgoing links (5)
Angiokeratomas (overview); Fabry's disease; Fucosidosis; Gaucher's disease; Morbus Kanzaki;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
.jpg){kind=small}
Prof. Dr. med. Peter Altmeyer