Journal of Endocrinology and Metabolism, ISSN 1923-2861 print, 1923-287X online, Open Access |
Article copyright, the authors; Journal compilation copyright, J Endocrinol Metab and Elmer Press Inc |
Journal website http://www.jofem.org |
Case Report
Volume 4, Number 1-2, April 2014, pages 32-35
A Novel Description of Increased Urinary Orotic Acid Excretion in Pediatric Trauma
Figure
Table
Urea cycle disorders [2] Ornithine transcarbamylase (OTC) deficiency Citrullinemia Argininosuccinic aciduria Arginase deficiency |
Pyrimidine and pyrimidine metabolism disorders Uridine monophosphate synthase deficiency (UMPS, hereditary orotic aciduria) [4, 5] UMPS, type I UMPS, type II Hereditary orotic aciduria without megaloblastic anemia (OAWA) Purine nucleoside phosphorylase (PNP) deficiency [5, 6] |
Drugs (via inhibition of orotidine-5'-monophosphate decarboxylase) [12] Allopurinol 6-azauridine |
Severe Traumatic injuries Motor vehicle accidents, accidental falls, and/or crush injuries [13] Multiple bone fractures, head injuries, and/or extensive soft-tissue damage [13] Gunshot wounds to the abdomen, chest and face [13] Sepsis and severe abdominal trauma - abdominal compartment syndrome (this report) Non-accidental trauma, child abuse and/or penetrating injuries (this report) |
Other disorders/syndromes Lysinuric protein intolerance [7] Rett syndrome [8] Reye syndrome [9] Lesch-Nyhan syndrome [10] Pervasive developmental delay (PPD) [11] |