Isolated Methylmalonic Acidemia Infantile Non B12 Responsive Cn381185
A metabolic disorder where the body cannot break down certain amino acids. Treated with special diet and supplements.
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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Metabolic acidosis
(metabolic)Failure to thrive
(metabolic)Seizures
(metabolic)Pancytopenia
(metabolic)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
Low-Protein Medical Diet
Specialized nutritional management with severe protein restriction and methionine-free, threonine-free, valine-free, isoleucine-free amino acid formulas to reduce toxic metabolite accumulation.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Metabolic Cofactor Supplementation
Administration of L-carnitine, vitamin B12, and biotin to support residual enzyme activity and improve metabolic function in affected patients.
Additional treatment options
Metabolic Laboratory Monitoring
Regular blood and urine testing to monitor methylmalonic acid levels, amino acid profiles, and organ function to prevent metabolic decompensation.
monitoringEmergency Metabolic Protocol
Structured sick-day management plan including increased calorie intake, reduced protein, and hospitalization protocols for acute illness to prevent catabolism.
lifestyleLiver Transplantation Evaluation
Surgical assessment for liver transplantation as definitive treatment for severe, refractory cases unresponsive to dietary and medical management.
procedureWhen 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 Isolated Methylmalonic Acidemia Infantile Non B12 Responsive Cn381185?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy