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

• Published in: Journal of Inherited Metabolic Disease
• Main Authors: Borud, O., Strömme, J. H., Lie, S. O., Torp, K. H.
• Format: Article in Journal/Newspaper
• Language: English
• Published: Wiley 1978
• Subjects: Norway; Northern Norway
• Online Access: http://dx.doi.org/10.1007/bf01805680; https://onlinelibrary.wiley.com/doi/pdf/10.1007/BF01805680

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.