Maple Syrup Urine Disease (MSUD) Clinical Characteristics
12 Questions
2 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

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</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</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</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</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</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</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</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</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</p> Signup and view all the answers

    More Like This

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser