Diagnosis and Treatment of OTC Deficiency

We have dealt with a number of issues in the diagnosis and treatment of OTC deficiency in previous chapters. Chapter 5 reviews the use of RFLPs(226,228,233) and DNA(225,227,232-234,240) analyses in diagnosis and introduces the use of allopurinol in testing for the carrier state(241). Chapter 7 discusses carrier detection with protein(393), alanine and allopurinol loading tests and some aspects of treatment of hyperammonemia by hemodialysis(376), diet(394), carnitine(480,543), alternative pathways of nitrogen excretion(492) and by liver transplantation(414,4333,437,438,443). The role of imaging methods is noted for computed tomography (CT) and magnetic resonance (MR) scans(403,422,425,435). Measurement of orotic acidJorotidine in urine is discussed(523,524) and also methods for assay of OTC in tissue samples(525,526,539,540). In this chapter we expand on all aspects of diagnosis and treatment.