Mannosidosis is a deficiency in mannosidase, an enzyme. There are two types: ...
Found on
http://en.wikipedia.org/wiki/Mannosidosis
Inborn error of metabolism marked by a defect in alpha-mannosidase activity that results in lysosomal accumulation of mannose-rich substrates. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. ... (12 Dec 1998) ...
Found on
http://www.encyclo.co.uk/local/20973
(man″o-sĭ-do´sis) an inborn error of metabolism, thought to be an autosomal recessive trait, marked by a defect in the enzyme that normally cleaves mannose residues from mannosides, so that there is lysosomal accumulation of mannose-rich substrates. Affected individuals have coarse features, upper respiratory conge...
Found on
http://www.encyclo.co.uk/local/21001
Type: Term Pronunciation: man′ō-si-dō′sis Definitions: 1. Congenital deficiency of α-mannosidase; associated with coarse facial features, enlarged tongue, mental retardation, kyphosis, radiographic skeletal abnormalities, and vacuolated lymphocytes, with accumulation of mannose in tissues; autosomal recessive inheritance,...
Found on
http://www.medilexicon.com/medicaldictionary.php?t=52663
No exact match found.
