Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency

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Abstract
Protein loading tests for the diagnosis of heterozygous ornithine carbamoyltransferase deficiency were performed on two occasions on an asymptomatic woman whose daughter and two infant sons died of the disease. Neither loading test produced the expected increases in urinary orotic acid excretion and studies of other pyrimidine and purine metabolites in urine and plasma did not suggest that these would provide better discrimination from non‐carriers. The results probably reflect an extensive inactivation of the mutant X chromosome in liver cells and reinforce the need for caution in interpreting negative test results.