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 — 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

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  • 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

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

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