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A lysosomal disorder caused by deficiency of aspartoglucosaminidase, resulting in accumulation of aspartylglycosamine 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 become evident by adolescence. Autosomal recessive inheritance, caused by mutation in the aspartoglucosaminidase gene (AGA) on 4q.
Farlex Partner Medical Dictionary © Farlex 2012
aspartylglycosaminuriaA disease due to deficiency of the enzyme aspartylglycosaminidase which splits acetylglucosamine from the polypeptide chain of glycoproteins. Aspartylglucosamine is excreted in large quantities in the urine. Affected children are short, with coarse features, cataracts, over-mobile joints and mental retardation. Most of the reported cases have been in Finland.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
A lysosomal disorder caused by deficiency of aspartoglucosaminidase; involves recurrent infections and diarrhea; mental retardation, seizures, coarse facial features, and skeletal abnormalities that become evident by adolescence.
Medical Dictionary for the Dental Professions © Farlex 2012