Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet

Abstract

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.