Metabolic Disorders and Inborn Errors of Metabolism

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Questions and Answers

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)?

  • 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)?

  • 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)?

<p>1 in 5000 births collectively (C)</p> Signup and view all the answers

What are the common outcomes of Impaired Metabolism Pathophysiology?

<p>Toxic metabolites produced as a result of the build up (B)</p> Signup and view all the answers

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