aspartylglycosaminuria

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as·par·tyl·gly·cos·a·mi·nu·ri·a

(as-par'til-glī-kō'să-min-yū'rē-ă), [MIM*208400]
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.

aspartylglycosaminuria

A 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.

as·par·tyl·gly·cos·a·mi·nu·ri·a

(as-par'til-glī-kō'să-min-yū'rē-ă) [MIM*208400]
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.
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References in periodicals archive ?
Finnishtype aspartylglucosaminuria detected by oligonucleotide ligation assay.
It should also be mentioned that other glycoprotein degradation disorders, such as aspartylglucosaminuria or Schindler disease (6, 21), are characterized by abnormal excretion of glycopeptides and cannot be identified by this technique.
Values as high as 1:18 500 for aspartylglucosaminuria in the Finnish population [29] and 1:24 000 for Sanfillipo syndrome (types A, B, C, and D) in The Netherlands [30] have been reported.