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 aspart...
| Published in: | Journal of Inherited Metabolic Disease |
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| Main Authors: | , , , |
| Format: | Article in Journal/Newspaper |
| Language: | English |
| Published: |
Wiley
1978
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| Subjects: | |
| Online Access: | http://dx.doi.org/10.1007/bf01805680 https://onlinelibrary.wiley.com/doi/pdf/10.1007/BF01805680 |
| Summary: | 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. |
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