A Novel Description of Increased Urinary Orotic Acid Excretion in Pediatric Trauma

Tim-Aroon Tim-Aroon

doi:10.14740/jem209w

Abstract

The diagnostic utility of orotic aciduria for suspected inborn errors of metabolism is well established. Orotic aciduria has been reported in traumatized adults, but not in children. A 2-year-old hyperammonemic girl with cardiac arrest and abdominal compartment syndrome secondary to non-accidental trauma with significant orotic aciduria is presented. To our knowledge, this is the first report highlighting the association of transiently elevated urinary orotic acid and mild uricosuria with severe trauma in children. Further investigations into the clinical use of orotic acid excretion as a biomarker of the catabolic state of pediatric trauma or other critical illness are warranted. J Endocrinol Metab. 2014;4(1-2):32-35 doi: http://dx.doi.org/10.14740/jem209w

Highlights

Elevated amounts of specific metabolites in bodily fluids such as urine, blood or CSF provide important clues for the diagnosis of an underlying inborn error of metabolism (IEM) or syndrome
Hypermetabolic responses with respect to pyrimidine, purine and polyamine metabolisms with concomitant orotic aciduria have been reported in adult trauma victims during the early catabolic phase of injury [13]
PRPP deficiency may arise from increased utilization of PRPP by phosphoribosyl transferases, such as hypoxanthine-guanine phosphoribosyl transferase (Fig. 1), in response to increased nucleotide catabolism during early catabolic phases of severe trauma injuries

Summary

Introduction

Elevated amounts of specific metabolites in bodily fluids such as urine, blood or CSF provide important clues for the diagnosis of an underlying inborn error of metabolism (IEM) or syndrome. In ornithine transcarbamylase (OTC) deficiency, the most common urea cycle disorder [3], elevated mitochondrial CP is shunted into the cytosolic pathway for the de novo synthesis of pyrimidines (Fig. 1) [1, 2].

Results

Conclusion