Diagnosis and Treatment of OTC Deficiency

  • Philip J. Snodgrass
Chapter

Abstract

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.

Keywords

Creatinine Arginine Glutamine Alanine Cataract 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Kluwer Academic Publishers 2004

Authors and Affiliations

  • Philip J. Snodgrass
    • 1
  1. 1.Indiana University School of MedicineUSA

Personalised recommendations