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PEDIATRICS Vol. 111 No. 5 May 2003, pp. 1123-1124

Partial Ornithine Transcarbamylase Deficiency

The first 20% of the full text of this article appears below.

To the Editor.—

We have read the article by Scaglia et al1 in which they describe the case report of a patient affected by ornithine transcarbamylase deficiency (OTCD) finally diagnosed after several approaches. Symptoms and routine metabolic analyses prompted genetic evaluation. After exhaustive research, no alteration could be found in the OTC gene. An allopurinol test was then performed and, according to the authors, was uninformative because of no increase in orotate excretion and lack of reference values to interpret the orotidine excretion.

We would like to point out that reference values to evaluate orotate and orotidine responses to allopurinol test do exist2 in children and adults. In our experience, increased orotidine response yielded better diagnostic performance than orotate. According to these data, the allopurinol test described in the cited article1 turns out to be clearly positive. We also found higher responses in infants than in children in normal populations. So, we usually normalize the orotate and orotidine responses . . . [Full Text of this Article]




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