Maple Syrup Urine Disease (MSUD) Clinical Characteristics
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Questions and Answers

What are the three main categories of maple syrup urine disease (MSUD)?

  • Mild, moderate, and severe
  • Classic, intermediate, and intermittent (correct)
  • Early-onset, late-onset, and intermittent
  • Type 1, Type 2, and Type 3

When do neonates with classic MSUD first show symptoms?

  • Immediately after birth
  • 12-24 hours after birth (correct)
  • 7-10 days after birth
  • 2-3 days after birth

What is the first sign of metabolic intoxication in classic MSUD?

  • Hypersomnolence
  • Anorexia
  • Irritability (correct)
  • Maple syrup odor in cerumen

What is the cause of the maple syrup odor in MSUD?

<p>Elevated concentrations of branched-chain amino acids (A)</p> Signup and view all the answers

What is the most severe symptom of classic MSUD?

<p>Critical cerebral edema, coma, and central respiratory failure (D)</p> Signup and view all the answers

How do individuals with intermediate MSUD differ from those with classic MSUD?

<p>They have a partial branched-chain alpha-ketoacid dehydrogenase deficiency (C)</p> Signup and view all the answers

What is the diagnostic confirmation for MSUD?

<p>Identification of biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT (A)</p> Signup and view all the answers

What is a suggested intervention for managing acute metabolic decompensation in MSUD?

<p>Delivering sufficient calories, insulin, free amino acids, isoleucine, and valine (B)</p> Signup and view all the answers

Which complication requires careful management in an intensive care setting in MSUD?

<p>Brain edema as a complication of metabolic encephalopathy (C)</p> Signup and view all the answers

What is a potential treatment option for adolescents and adults with MSUD experiencing attention-deficit/hyperactivity disorder?

<p>Standard psychostimulant and antidepressant medications (B)</p> Signup and view all the answers

What is a suggested method for preventing neuropsychiatric morbidities in individuals with MSUD?

<p>A trial of enteral thiamine (C)</p> Signup and view all the answers

What is the primary aim of using a 'sick-day' formula recipe in managing catabolic illnesses in MSUD?

<p>To enrich with calories, isoleucine, valine, and BCAA-free amino acids (A)</p> Signup and view all the answers

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