alpha-Mannosidosis

Definition:

Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-mannosidase in glycoprotein catabolism. The enzymatic defect results in the accumulation of mannose-rich oligosaccharides in many organs. Alpha-mannosidosis is characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and mental retardation. The disorder has been described as two distinct phenotypes: a severe form with hepatomegaly and early death following severe infections (type 1) and a mild form with hearing loss and mental retardation (type 2).

References:

[1]. Dag Malm, et al. Alpha-mannosidosis. Orphanet J Rare Dis. 2008 Jul 23;3:21. [Content Brief]

[2]. H Sun, et al. Recent progress in lysosomal alpha-mannosidase and its deficiency. Exp Mol Med. 2001 Mar 31;33(1):1-7. [Content Brief]

[3]. J C Michalski, et al. Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):69-84. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.