RESUMEN
Aims: To establish a possible correlation between children’s clinical status and carbohydrates in their urine samples as they could be a useful additional tool for objective assessment of muscle tone and motor development. Place and Duration of Study: The Department of Child, Adolescent and Developmental Neurology, University Children’s Hospital in Ljubljana between December 1, 2011 and August 31, 2013. Methodology: The retrospective part of the study comprised children aged 0-5 years (average age, 29.3 months) with motor developmental delay and/or abnormal muscle tone. A group of healthy individuals comprised the prospective part. Besides clinical assessment, electrochemical detection of ten sugars in the urine samples was performed using ion chromatography combined with electrochemical detection and tandem mass spectrometry. Results: 72.0% of 82 hospitalised children had a disorder of muscle tone and/or DQ < 70, 28.0% had a pathological urine sample and an abnormal clinical examination, while 44.0% of children had a clinical abnormality and a normal urine sample. In the control group, 22.7% had pathological urine samples. There was a statistically significant difference between patients and control subjects in the value of fucose (p = 0.020), sucrose (p = 0.051) and ribose (p = 0.000). Conclusion: A significant correlation was found between abnormalities in clinical status and pathological urine samples (p = 0.002). Absolute and relative values of specific carbohydrates and the number of elevated sugars showed a strong correlation with disease severity.