aspartylglycosaminuria

Pronunciation: as-par′til-glī-kō′să-min-yū′rē-ă

Definition: 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.

Synonym(s): aspartylglucosaminuria

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