Aspartylglucosaminuria

Definition:

Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by deficiency of aspartylglucosaminidase, which is a key enzyme in the catabolism of N-linked oligosaccharides of glycoproteins. The enzymatic defect results in inappropriate accumulation of aspartylglucosamines in various organ systems as well as elevated metabolite levels in urine. The main symptoms of aspartylglucosaminuria are progressive mental retardation, coarse faces, behavioral, and hepatosplenomegaly.

References:

[1]. I Mononen, et al. Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation. FASEB J. 1993 Oct;7(13):1247-56. [Content Brief]

[2]. 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]

[3]. N N Aronson Jr, et al. Aspartylglycosaminuria: biochemistry and molecular biology. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):139-54. [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.