Maple Syrup Urine Disease Type 1b C2930990
A metabolic disorder where the body cannot break down certain amino acids properly. Usually diagnosed in newborns. Managed with a strict special diet from infancy onward.
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
Coma
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Poor feeding
(metabolic)Intellectual disability
(neurological)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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Restrictive dietary management
Similar to MSUD type 1a, involves lifelong restriction of branched-chain amino acids through specialized medical formulas and careful monitoring of intake.
Thiamine supplementation
Many patients with MSUD type 1b respond well to high-dose thiamine therapy, which can improve residual enzyme function and reduce dietary dependence.
Additional treatment options
Emergency metabolic crisis protocols
Hospital-based intervention with IV dextrose, insulin therapy if needed, and correction of metabolic acidosis during acute decompensation episodes.
procedureRegular metabolic monitoring
Scheduled laboratory testing of amino acid levels, neurological assessments, and growth parameters to maintain optimal long-term metabolic control.
monitoringDietary supplement support
Adjunctive supplementation with carnitine, coenzyme Q10, and other mitochondrial cofactors to support cellular energy metabolism and overall metabolic function.
complementaryWhen 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 1b C2930990?
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.
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