Podcast
Questions and Answers
What is the primary cause of Inborn Errors of Metabolism (IEM)?
What is the primary cause of Inborn Errors of Metabolism (IEM)?
- Precursors accumulated due to block or impaired feedback inhibition
- Changes in binding site of cofactor
- Toxic metabolites produced as a result of the build up
- Deficient or absent enzyme activity (correct)
What is the consequence of Inborn Errors of Metabolism (IEM)?
What is the consequence of Inborn Errors of Metabolism (IEM)?
- Mixture of the two (correct)
- Changes in binding site of cofactor
- Cellular Intoxication
- Energy deprivation
What is the most challenging task for clinicians in relation to Inborn Errors of Metabolism (IEM)?
What is the most challenging task for clinicians in relation to Inborn Errors of Metabolism (IEM)?
- Understanding the exact mechanism of IEM
- Treating IEM effectively with existing medication
- Knowing when to consider IEM and which tests to order for evaluation (correct)
- Diagnosing IEM based on symptoms alone
What is the frequency of occurrence of Inborn Errors of Metabolism (IEM)?
What is the frequency of occurrence of Inborn Errors of Metabolism (IEM)?
What are the common outcomes of Impaired Metabolism Pathophysiology?
What are the common outcomes of Impaired Metabolism Pathophysiology?