Diagnosis of urea cycle disorders.
Hyperammonemia in pediatrics can be due to a number of causes (defects of urea cycle enzymes or transport of its metabolites, organic acidurias, acyl-CoA dehydrogenase or carnitine deficiency, liver bypass or nonspecific insufficiency) requiring differentiated rapid treatment for a satisfactory prognosis. The specific diagnosis cannot be established by clinical means. Thus the work-up rests on biochemical analyses. The methods used are detailed and their interpretation discussed. An algorithm for the interpretation of the data which can easily be computerized is presented. The procedure has proven practicable in 126 patients with urea cycle disorders.
Department of Clinical Chemistry, Inselspital, University of Berne, Switzerland.
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Bachmann
D000465:Algorithms; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000378:metabolism* / Q000652:urine; D000596:Amino Acids / Q000378:metabolism; D000641:Ammonia / Q000097:blood*; D002264:Carboxylic Acids / Q000652:urine; D002331:Carnitine / Q000378:metabolism; D006801:Humans; D009963:Orotic Acid / Q000652:urine
D000596:Amino Acids; D002264:Carboxylic Acids; D009963:Orotic Acid; D000641:Ammonia; D002331:Carnitine