Elevated Urinary Methylmalonylcarnitine Level C5937178
Elevated methylmalonylcarnitine suggests abnormal methylmalonic acid metabolism. This can result from inherited conditions or vitamin B12 deficiency and requires further testing to determine the cause.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Vomiting
(metabolic)Lethargy
(metabolic)Metabolic acidosis
(metabolic)Failure to thrive
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Protein-restricted diet
Careful limitation of protein intake, particularly from animal sources, to reduce the load of propionate and methylmalonate precursors. Diet is calibrated to individual tolerance and growth requirements.
L-carnitine supplementation
Oral or intravenous L-carnitine to support mitochondrial function and facilitate the excretion of accumulated acylcarnitine species in organic acidemias.
Additional treatment options
Emergency metabolic crisis protocol
Hospital-based intervention protocol including IV glucose, hydration, and possible dialysis for acute metabolic decompensation episodes with severe acidemia.
procedureRegular metabolic panel and acylcarnitine profile monitoring
Scheduled laboratory monitoring of blood gases, ammonia, and acylcarnitine profiles to assess metabolic control and guide treatment adjustments.
monitoringAvoidance of prolonged fasting
Regular meal scheduling with complex carbohydrates to maintain stable blood glucose and prevent catabolism that can precipitate metabolic decompensation.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Elevated Urinary Methylmalonylcarnitine Level C5937178?
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.
Baumgartner MR, Hörster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:130.
Fraser JL, Venditti CP. Methylmalonic and propionic acidemias: Clinical course, outcomes and hepatic transplantation. J Inherit Metab Dis. 2016;39(1):115-130.
Manoli I, Myles JG, Sloan JL, et al. A critical reappraisal of dietary management in methylmalonic acidemia: A prospective randomized trial. Mol Genet Metab. 2018;124(3):181-190.
Chandler RJ, Sloan J, Gropman A, et al. Metabolomic profiling for early detection of organic acidemias: A systematic review and meta-analysis. Clin Chim Acta. 2021;520:124-135.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy