Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet.
Urinary excretion of aspartylglycosamines was investigated in eight patients by semiquantitative thin-layer chromatography, and bound glycosamines by a quantitative photometric method (Elson-Morgan reaction). Each patient showed a fairly constant level, relative to the creatinine, of aspartylglycosamines in urine. The least retarded patient, aged 31, excreted about 350 mg/g creatinine, one-third of that found in two severely retarded young patients, aged 4 and 7 years (1400 and 940 mg/g creatinine, respectively). Three days on a low-protein diet did not change the aspartylglycosamine excretion in the patient showing the highest excretion rate.
D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000293:Adolescent; D000328:Adult; D000581:Amidohydrolases / Q000172:deficiency*; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000652:urine; D054880:Aspartylglucosaminuria; D002648:Child; D002675:Child, Preschool; D003404:Creatinine / Q000652:urine; D004044:Dietary Proteins; D005260:Female; D005944:Glucosamine / Q000031:analogs & derivatives*; D006801:Humans; D008607:Intellectual Disability / Q000652:urine; D008297:Male; D009081:Mucolipidoses / Q000652:urine*
D004044:Dietary Proteins; C000009:N-acetylglucosaminylasparagine; D001224:Aspartic Acid; D003404:Creatinine; D000581:Amidohydrolases; D005944:Glucosamine; D000117:Acetylglucosamine