aspartylglycosaminuria

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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