Maple Syrup Urine Disease Type 1a C1855369
A metabolic disorder where the body cannot process certain amino acids, causing sweet-smelling urine. Typically detected at birth. Requires lifelong specialized diet and careful monitoring.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Encephalopathy
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Maple syrup odor of urine
(metabolic)Feeding difficulties
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Branched-chain amino acid restricted diet
Lifelong dietary management restricting leucine, isoleucine, and valine through specialized formulas and careful food selection to prevent toxic metabolite accumulation.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Thiamine supplementation trial
High-dose vitamin B1 supplementation to test for thiamine responsiveness, which may improve residual enzyme activity in some patients with MSUD.
Additional treatment options
Acute metabolic crisis management
Emergency intervention during metabolic decompensation including IV glucose, lipid emulsion, and amino acid-free parenteral nutrition to reverse catabolism.
procedureMetabolic parameter monitoring
Regular measurement of branched-chain amino acids, alloisoleucine, and biochemical markers to guide dietary adjustments and assess metabolic control.
monitoringLiver transplantation evaluation
Consideration of liver transplant in severe, refractory cases to provide enzyme source capable of metabolizing branched-chain amino acids systemically.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Maple Syrup Urine Disease Type 1a C1855369?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy