aspartylglucosaminuria

aspartylglucosaminuria
as·par·tyl·glu·co·sa·min·uria (ə-spahr″təl-gloo″kōs-am″in-uґre-ə) a severe autosomal recessive lysosomal storage disease caused mutations in the AGA gene (locus: 4q32-q33), which encodes aspartylglucosaminidase. The disorder is preceded by diarrhea and frequent infections in infancy, with later onset of severe mental retardation, coarsening of features, lens opacity, and skeletal dysplasia, as well as storage and urinary excretion of abnormal levels of aspartylglucosamine and related glycopeptides. Called also aspartylglycosaminuria.

Medical dictionary. 2011.

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  • Aspartylglucosaminuria — Infobox Disease Name = PAGENAME Caption = Aspartylglucosamine DiseasesDB = 952 ICD10 = ICD10|E|77|1|e|70 ICD9 = ICDO = OMIM = 208400 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Aspartylglucosaminuria (AGU), also called… …   Wikipedia

  • aspartylglucosaminuria — noun A rare autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme aspartylglucosaminidase …   Wiktionary

  • AGU — aspartylglucosaminuria …   Medical dictionary

  • AGU — • aspartylglucosaminuria …   Dictionary of medical acronyms & abbreviations

  • Aspartylglucosaminidase — PDB rendering based on 1apy …   Wikipedia

  • АСПАРТИЛГЛИКОЗАМИНУРИЯ — мед. Аспартилгликозаминурия развивается при недостаточности гликозиласпарагиназы (*208400, КФ 3.5.1.26, 4q32 q33, ген AGU, 12 аллелей, р). Фермент расщепляет 2 ацетами до 1 (р 1 аспартамидо) 1,2 дидезоксиглюкозу. Экскреция этого соединения… …   Справочник по болезням

  • Glycoprotein — Not to be confused with peptidoglycan or proteoglycan. N linked protein glycosylation (N glycosylation of N glycans) at Asn residues (Asn x Ser/Thr motifs) in glycoproteins.[1] Glycoproteins are proteins that contain oligosaccharide chai …   Wikipedia

  • Congenital disorder of glycosylation — Congenital disorders of glycosylation Classification and external resources ICD 10 E77.8 ICD 9 271.8 …   Wikipedia

  • AGU — is a three letter abbreviation that may refer to All Grown Up!, a Nickelodeon cartoon series that ran from 2003 to 2006 (AGU could also refer to its Rugrats pilot episode All Growed Up ).It may also refer to:* Address Generation Unit, common part …   Wikipedia

  • Sialidosis — Classification and external resources Sialic acid ICD 10 E77.1 OMIM …   Wikipedia

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