Title : Optimization of allopurinol challenge: sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency.

Pub. Date : 1999 Jul

PMID : 10388475






2 Functional Relationships(s)
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1 BACKGROUND: The diagnosis of heterozygosity for X-linked ornithine carbamoyltransferase (OCT) deficiency has usually been based on measurement of the increase of orotate and orotidine excretion after an allopurinol load. Orotic Acid ornithine transcarbamylase Homo sapiens
2 BACKGROUND: The diagnosis of heterozygosity for X-linked ornithine carbamoyltransferase (OCT) deficiency has usually been based on measurement of the increase of orotate and orotidine excretion after an allopurinol load. Orotic Acid ornithine transcarbamylase Homo sapiens