DIAGNOSIS AND TREATMENT OF ORNITHINE TRANSCARBAMYLASE (OTC)-DEFICIENCY

Ornithine transcarbamylase deficiency is the most frequent inborn erro r of metabolism of the urea cycle which causes severe hyperammonemia i n hemizygous boys within the first days of life. However, also girls h eterozygous for this x-linked disorder can develop life-threatening hy perammonemia and chronic progressive encephalopathy. This paper descri bes the emergency treatment of first manifestations including all nece ssary diagnostic measures as well as the longterm therapy and its cont rol. Enclosed are the details about the allopurinol challenge test for the detection of heterozygous women and girls.