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Purine and pyrimidine metabolites in children's urine
Claudia Vidotto1, David Fousert, Marteen Akkermann
1Institute of Laboratory Diagnostics, Kaiser Franz Josef Hospital, Kundratstrasse 3, A-1100 Vienna, Austria. Claudia.vidotto@wienkav.at
Insights
This study establishes a HPLC method to screen for urinary purine and pyrimidine metabolites in children. It provides crucial age-related reference ranges for diagnosing metabolic disorders.
Area of Science:
- Biochemistry
- Pediatric Medicine
- Metabolic Disorders
Background:
- Enzyme defects in purine and pyrimidine metabolism cause pediatric diseases affecting multiple organ systems.
- Examples include Lesch-Nyhan syndrome (HPRT deficiency) and arthromyopathy (XDH deficiency).
- Urinary metabolite screening is a valuable diagnostic approach.
Purpose of the Study:
- To develop a reverse-phase High-Performance Liquid Chromatography (HPLC) screening method for urinary purines and pyrimidines.
- To establish age-related reference ranges for specific urinary metabolites in children.
Main Methods:
- Development of a reverse-phase HPLC method for analyzing urinary purines and pyrimidines.
- Measurement of urinary excretion of orotic acid, uracil, pseudouridine, uric acid, hypoxanthine, xanthine, thymine, 7-methylguanine, inosine, guanosine, and adenosine.
- Establishment of age-specific reference ranges for these metabolites in a pediatric population.
Main Results:
- A validated HPLC screening method for urinary purine and pyrimidine metabolites was successfully established.
- Age-related reference ranges for key urinary metabolites were determined for children.
- The method facilitates the diagnosis of various inborn errors of metabolism.
Conclusions:
- The developed HPLC method is a practical tool for screening pediatric patients for purine and pyrimidine metabolic disorders.
- Established reference ranges are essential for accurate interpretation of urinary metabolite excretion in children.
- This screening aids in early diagnosis and management of related diseases.
Abstract:
Various enzyme defects in the metabolic pathways of purines and pyrimidines are known, which result in different diseases occurring in children. They mainly affect kidney function, central nervous system, immunological and blood system. For example, complete deficiency of HPRT (hypoxanthine-guanine-phosphoribosyl-transferase) causes the Lesch Nyhan syndrome, which is characterized by hyperuricemia, mental retardation, choreoathetosis and compulsive self-mutilation. XDH deficiency (xanthine-dehydrogenase) causes in arthropathia and myopathia. For screening for these and other enzyme defects, urinary purine and pyrimidine excretion is considered a simple diagnostic tool. The purpose of the present study was to establish a reverse phase HPLC screening method for urinary purines and pyrimidines and to establish age related reference ranges in children for the urinary excretion of orotic acid, uracile, pseudouridine, uric acid, hypoxanthine, xanthine, thymine, 7-methylguanine, inosine, guanosine and adenosine.