Aspartylglucosaminuria is an autosomal recessive disorder of lysosomal storage caused by a mutation in the AGA gene which codes for N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase. A deficiency in this enzyme results in accumulation of aspartylglycosamine and oligosaccharides in urine. Symptoms, which present in childhood, include skeletal changes, speech abnormalities, macroglossia, and mental retardation. Treatment includes bone marrow transplants.
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