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

J Inherit Metab Dis. 1978;1(3):95-7. doi: 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.

MeSH terms

  • Acetylglucosamine / analogs & derivatives*
  • Acetylglucosamine / urine
  • Adolescent
  • Adult
  • Amidohydrolases / deficiency*
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / urine
  • Aspartylglucosaminuria*
  • Child
  • Child, Preschool
  • Creatinine / urine
  • Dietary Proteins*
  • Female
  • Glucosamine / analogs & derivatives*
  • Humans
  • Intellectual Disability / urine
  • Male
  • Mucolipidoses / urine*

Substances

  • Dietary Proteins
  • N-acetylglucosaminylasparagine
  • Aspartic Acid
  • Creatinine
  • Amidohydrolases
  • Glucosamine
  • Acetylglucosamine