Diagnosis and treatment of ornithine transcarbamylase (OTC)-deficiency

Ornithine transcarbamylase deficiency is the most frequent inborn error of metabolism of the urea cycle which causes severe hyperammonemia in hemizygous boys within the first days of life. However, also girls heterozygous for this x-linked disorder can develop life-threatening hyperammonemia and chronic progressive encephalopathy. This paper describes the emergency treatment of first manifestations including all necessary diagnostic measures as well as the longterm therapy and its control. Enclosed are the details about the allopurinol challenge test for the detection of heterozygous women and girls.