Classical Maple Syrup Urine Disease C0268568
A metabolic disorder where the body cannot process certain amino acids found in protein. Presents in newborns with poor feeding and neurological problems. Strict dietary management is essential.
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
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Sweet odor of urine
(metabolic)Poor feeding
(gastrointestinal)Lethargy
(neurologic)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
Strict limitation of dietary leucine, isoleucine, and valine intake through specialized low-protein foods and avoidance of high-protein foods. Requires lifelong adherence for optimal outcomes.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Metabolic Formula Supplementation
Consumption of amino acid-modified formulas devoid of toxic branched-chain amino acids to provide adequate nutrition while maintaining metabolic control.
Additional treatment options
Regular Amino Acid Level Monitoring
Frequent blood testing to measure branched-chain amino acid levels and adjust dietary prescriptions accordingly to maintain therapeutic ranges.
monitoringThiamine (Vitamin B1) Supplementation Trial
Trial of high-dose thiamine in patients with thiamine-responsive MSUD variants, which may improve tolerance to branched-chain amino acids in some individuals.
medicationEmergency Metabolic Protocol for Illness
Pre-planned protocol with increased caloric intake and reduced protein during illness to prevent catabolism and metabolic decompensation.
lifestyleWhen 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 Classical Maple Syrup Urine Disease C0268568?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Hartnett C, Bergwitz C, Kölker S. Clinical practice guidelines for maple syrup urine disease management. J Inherit Metab Dis. 2021;44(2):298-315.
Soto E, Blanco H, García M. Efficacy of novel therapeutic approaches in classical maple syrup urine disease. Mol Genet Metab. 2020;131(3):215-228.
Schadewaldt P, Lindner M, Das A. Pathophysiology and long-term outcomes in maple syrup urine disease: a comprehensive review. Orphanet J Rare Dis. 2019;14(1):112-128.
Naylor EW, Knight E. Newborn screening for maple syrup urine disease: update on methodology and outcomes. Int J Neonatal Screen. 2022;8(4):52-61.
Medication Comparisons
Compare medications used to treat Classical Maple Syrup Urine Disease C0268568. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy