Methylmalonic Aciduria Mut 0 Type C1855115
A rare inherited metabolic disorder where the body cannot properly break down certain amino acids and fatty acids, leading to a harmful buildup of acids. It typically affects newborns and infants, causing feeding problems, developmental delays, and organ damage. Treatment involves a strict special diet, vitamin supplements, and sometimes organ transplantation.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fatigue or weight changes
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Metabolic acidosis
Basal ganglia lesions
Hypotonia
(neurological)Vomiting
(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
Minimally invasive procedural intervention
Requires immediate emergency medical intervention. Do not delay treatment.
Restrictive dietary protein management
Severe restriction of natural protein intake with specialized metabolic formula supplementation providing essential amino acids except propionate-generating precursors, along with calculated leucine, isoleucine, valine, methionine, and threonine allowances.
Carglumic acid therapy
Synthetic N-carbamoylglutamate replacement providing alternative nitrogen disposal pathway to reduce propionate accumulation when residual mutase activity exists.
Additional treatment options
Hydroxocobalamin (vitamin B12) supplementation
High-dose parenteral hydroxycobalamin trials to assess for B12-responsive subtypes, with some mut0 patients showing partial response that may permit protein liberalization.
medicationLiver transplantation
Definitive organ replacement providing functional methylmalonyl-CoA mutase enzyme, allowing for liberalization of dietary restrictions and prevention of metabolic decompensations.
surgicalMetabolic monitoring and emergency protocols
Regular measurement of methylmalonic acid, amino acids, and acylcarnitine profiles with established sick-day protocols and home testing capabilities for prompt intervention during catabolic stress.
monitoringMedication Comparisons
Compare medications used to treat Methylmalonic Aciduria Mut 0 Type C1855115. 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