12 Questions
What are the three main categories of maple syrup urine disease (MSUD)?
Classic, intermediate, and intermittent
When do neonates with classic MSUD first show symptoms?
12-24 hours after birth
What is the first sign of metabolic intoxication in classic MSUD?
Irritability
What is the cause of the maple syrup odor in MSUD?
Elevated concentrations of branched-chain amino acids
What is the most severe symptom of classic MSUD?
Critical cerebral edema, coma, and central respiratory failure
How do individuals with intermediate MSUD differ from those with classic MSUD?
They have a partial branched-chain alpha-ketoacid dehydrogenase deficiency
What is the diagnostic confirmation for MSUD?
Identification of biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT
What is a suggested intervention for managing acute metabolic decompensation in MSUD?
Delivering sufficient calories, insulin, free amino acids, isoleucine, and valine
Which complication requires careful management in an intensive care setting in MSUD?
Brain edema as a complication of metabolic encephalopathy
What is a potential treatment option for adolescents and adults with MSUD experiencing attention-deficit/hyperactivity disorder?
Standard psychostimulant and antidepressant medications
What is a suggested method for preventing neuropsychiatric morbidities in individuals with MSUD?
A trial of enteral thiamine
What is the primary aim of using a 'sick-day' formula recipe in managing catabolic illnesses in MSUD?
To enrich with calories, isoleucine, valine, and BCAA-free amino acids
Explore the clinical characteristics of Maple Syrup Urine Disease (MSUD), which is categorized as classic (severe), intermediate, or intermittent. Learn about the symptoms and diagnosis of classic MSUD, including the elevated concentrations of branched-chain amino acids and the detection of a distinctive maple syrup odor.
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