Biomaterial Database

Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase. 1981

M Z Jones, and G Dawson

A rapidly fatal neurovisceral storage disease was discovered in both male and female offspring of clinically normal Nubian goats. Microscopic examination of fixed tissues revealed extensive demyelination and ubiquitous distribution of lysosomal storage vacuoles containing dispersed floccular material and membranous fragments. Urine was found to contain elevated levels of both mannose and N-acetylglucosamine, suggestive of an oligosaccharide storage disease. Brain was found to contain 2.2 mumol/g of a trisaccharide Man(beta 1-4)GlcNAc(beta 1-4)GlcNAc; (Jones, M. Z., and Laine, R. A. (1980) Fed. Proc. 39, 2521 and Jones, M. Z., and Laine, R. A. (1981) J. Biol. Chem. 256, 5181-5184). A profound deficiency of beta-D-mannosidase activity was found in a number of tissues from affected goats; obligate heterozygotes showed a partial enzyme deficiency. Other lysosomal hydrolase activities were normal or elevated over normal, including alpha-D-mannosidase, confirming that this was a hitherto undescribed inborn error of glycoprotein catabolism.

UI	MeSH Term	Description	Entries
D007668	Kidney	Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.	Kidneys
D007700	Kinetics	The rate dynamics in chemical or physical systems.
D008297	Male		Males
D008361	Mannosidases	Glycoside hydrolases that catalyze the hydrolysis of alpha or beta linked MANNOSE.	Mannosidase
D009005	Monosaccharides	Single chain carbohydrates that are the most basic units of CARBOHYDRATES. They are typically colorless crystalline substances with a sweet taste and have the same general formula CnH2nOn.	Monosaccharide,Simple Sugar,Simple Sugars,Sugar, Simple,Sugars, Simple
D009422	Nervous System Diseases	Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.	Neurologic Disorders,Nervous System Disorders,Neurological Disorders,Disease, Nervous System,Diseases, Nervous System,Disorder, Nervous System,Disorder, Neurologic,Disorder, Neurological,Disorders, Nervous System,Disorders, Neurologic,Disorders, Neurological,Nervous System Disease,Nervous System Disorder,Neurologic Disorder,Neurological Disorder
D002239	Carbohydrate Metabolism, Inborn Errors	Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.	Carbohydrate Metabolism, Inborn Error
D005260	Female		Females
D006041	Goats	Any of numerous agile, hollow-horned RUMINANTS of the genus Capra, in the family Bovidae, closely related to the SHEEP.	Capra,Capras,Goat
D000818	Animals	Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA.	Animal,Metazoa,Animalia