Overview

The main learning objectives of module 3:

This section puts together what has been learnt in modules 1 and 2 so that you will:

• Be familiar with the causes of hyperammonaemia in children and adults (both genetic and non-genetic)
• Know which investigations are required in the investigation of hyperammonaemia and their interpretation
• Know how to use available medical & dietary treatments for immediate & long term management, and the mechanisms for their action
• Know how patients should be monitored
• Be familiar with the studies on outcomes for individuals with hyperammonaemia and the factors that influence these outcomes
• Be able to counsel patients & families about the outcomes of hyperammonaemia (with reference to particular disorders), the recurrence risk and prenatal testing

Module 3 uses case studies to achieve the above objectives. After studying them carefully, and using the information from modules 1 and 2, you should have a working knowledge of the causes of hyperammonaemia, clinical presentation and natural history as well as all aspects of management.