Aspartylglycosaminuria

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Aspartylglycosaminuria

One of the disorders of glycoprotein catabolism resulting from the absence of aspartylglycosamine amidohydrolase, characterised by aspartylglycosamine in the urine and spinal fluid. Symptoms develop in the first months of life, with recurrent infections and diarrhoea. Mental retardation, coarse facial features, and skeletal abnormalities are evident by adolescence.