H00145 | |
H number | H00145 |
Name | Aspartylglucosaminuria |
Description | 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. |
Category | Inherited metabolic disorder, Lysosomal disease |
Network | - |
Gene | AGA [HSA:175] [KO:K01444] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C56.21 ICD-10: E77.1 MeSH: D054880 OMIM: 208400 |
Reference | PMID:10571008 AUTHORS Aronson NN Jr TITLE Aspartylglycosaminuria: biochemistry and molecular biology. JOURNAL Biochim Biophys Acta 1455:139-54 (1999) DOI:10.1016/S0925-4439(99)00076-9 PMID:10571005 AUTHORS Michalski JC, Klein A TITLE Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. JOURNAL Biochim Biophys Acta 1455:69-84 (1999) DOI:10.1016/S0925-4439(99)00077-0 PMID:8405810 AUTHORS Mononen I, Fisher KJ, Kaartinen V, Aronson NN Jr TITLE Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation. JOURNAL FASEB J 7:1247-56 (1993) DOI:10.1096/fasebj.7.13.8405810 |