aspartylglycosaminuria
A lysosomal disorder due to deficiency of aspartoglucosaminidase, resulting in accumulation of aspartlyglycosamine in the urine and spinal fluid; characterized by symptoms usually in the first few months of life, with recurrent infections and diarrhea; mental retardation, seizures, coarse facial features, and skeletal abnormalities are evident by adolescence. Autosomal recessive inheritance, caused by mutation in the aspartoglucosaminidase gene (AGA) on 4q.

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as·par·tyl·gly·cos·a·mi·nu·ria (ə-spahrґtəl-gliґkōs-ə-min-uґre-ə) aspartylglucosaminuria.

Medical dictionary. 2011.

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  • aspartylglycosaminidase — A hydrolytic enzyme that cleaves off l aspartate from aspartylglycosamines. A deficiency of a. can result in aspartylglycosaminuria. * * * as·par·tyl·gly·cos·amin·i·dase (ə spahr″təl gli kōs″ə minґĭ dās)… …   Medical dictionary

  • Coarse facial features — refer to a similar change in facial features in the advanced stage of certain conditions like Cretinism, Mucopolysaccharidoses etc, where affected individuals look remarkably similar due to the coarsening of their facial features. These typical… …   Wikipedia

  • aspartylglucosamine — as·par·tyl·glu·co·sa·mine (ə spahr″təl gloo kōsґə mēn) N acetylglucosamine in N glycosidic linkage with the amino group of asparagine; it is an intermediate in the degradation of glycoproteins and accumulates… …   Medical dictionary

  • aspartylglucosaminidase — as·par·tyl·glu·co·sa·min·i·dase (ə spahr″təl gloo kōs″ə minґĭ dās) a lysosomal enzyme of the hydrolase class that catalyzes the cleavage of N glycosidic linkages between N acetylglucosamine and asparagine …   Medical dictionary

  • 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… …   Medical dictionary

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