mannosidosis
mannosidosis
[man″o-sĭ-do´sis]an inborn error of metabolism, thought to be an autosomal recessive trait, marked by a defect in alpha-mannosidase activity, resulting in lysosomal accumulation of mannose-rich substrates. Clinically, there are coarse features, upper respiratory congestion and infections, profound mental retardation, hepatosplenomegaly, cataracts, radiographic signs of defective ossification, and a gibbus deformity (hump). A much milder form also occurs.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
man·no·si·do·sis
(man'ō-si-dō'sis), [MIM*248500]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, caused by mutation in the α-mannosidase gene (MANB) on chromosome 19p.
Farlex Partner Medical Dictionary © Farlex 2012
mannosidosis
(măn′ə-sĭ-dō′sĭs)n.
1. An inherited lysosomal storage disease (alpha-mannosidosis) characterized by the accumulation of mannose-containing oligosaccharides in the tissues, resulting in symptoms of varying severity that include intellectual disability, enlarged liver and spleen, facial dysmorphism, skeletal abnormalities, immune deficiency, and hearing loss.
2. An inherited lysosomal storage disease (beta-mannosidosis) characterized by the accumulation of mannose-containing disaccharides in the tissues, resulting in intellectual disability, hearing loss, and often angiokeratomas.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
mannosidosis
(1) Alpha-mannosidosis, see there.(2) Beta-mannosidosis, see there.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
mannosidosis
Alpha-d-mannosidase deficiency Metabolic disease An AR condition caused by a defect in lysosomal alpha B mannosidase Clinical Macrocephaly, thickened calvaria, coarse face, macroglossia, wide-spaced teeth, prognathism, deafnessMcGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
mannosidosis
An autosomal recessive lysosomal storage disease similar to Hurler's disease, caused by a deficiency of the enzyme alpha mannosidase. There are two types; Type 1leads to an early death from severe systemic disturbances. Type II is less severe.Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
man·no·si·do·sis
(man'ō-si-dō'sis) [MIM*248500]Congenital deficiency of α-mannosidase; associated with coarse facial features, enlarged tongue and other findings.
Medical Dictionary for the Dental Professions © Farlex 2012