Volume 23, Number 7, 662-668, DOI: 10.1023/A:1005610325170

Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants

E. Riudor, J. A. Arranz, M. Rodés, V. Rubio, M. Sentís and A. B. Burlina

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Abstract

Measurement of urinary orotidine and orotic acid after an oral allopurinol challenge is an important diagnostic test for ornithine carbamoyltransferase deficiency that is sometimes used in infants (<1 year="" of="" age),="" although="" there="" is="" little="" information="" on="" normal="" test="" results="" in="" this="" age="" group.="" we="" found="" higher="" orotidine="" excretion="" in="" normal="" infants="" than="" in="" older="" children="" given="" the="" test,="" whereas="" orotate="" excretion="" was="" similar="" in="" both="" groups.="" the="" increased="" orotidine="" excretion="" appears="" to="" be="" due="" to="" the="" use="" in="" the="" infants="" of="" higher="" allopurinol="" doses="" per="" kilogram="" of="" body="" weight="" than="" in="" the="" children.="" the="" normalized-dose="" dependency="" of="" the="" orotidine="" response="" extends="" even="" to="" adult="" age.="" thus,="" dose-normalized="" responses="" should="" be="" used="" in="" the="" test="" and="" there="" is="" no="" need="" for="" careful="" age-matching="" of="" the="">

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