Abnormal Circulating Dicarboxylic Acid Concentration C5139055
Dicarboxylic acids are organic compounds involved in metabolism. Abnormal concentrations may suggest problems with fatty acid processing or certain metabolic disorders. Diagnosis involves metabolic testing, and treatment addresses the specific underlying condition.
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.
Warning signs - seek immediate care
Seizures
Neurological episodes resulting from metabolic encephalopathy and electrolyte imbalances.
Any first-time seizure or seizure lasting more than 5 minutes is a medical emergency.
Coma
Loss of consciousness due to severe metabolic acidosis and encephalopathy.
Any loss of consciousness is a medical emergency requiring immediate emergency care.
Fatigue and weakness
(constitutional)Persistent tiredness and generalized muscle weakness due to impaired energy metabolism from accumulated dicarboxylic acids.
Frequency: 70-80% of patients
Vomiting and nausea
(gastrointestinal)Recurrent episodes of vomiting and nausea often accompanying metabolic crises.
Frequency: 60-70% of patients
Hypoglycemia
(constitutional)Low blood sugar levels due to impaired gluconeogenesis and fatty acid oxidation.
Frequency: 50-60% of patients
Hepatomegaly
(gastrointestinal)Enlarged liver due to fatty infiltration from accumulated dicarboxylic acids.
Frequency: 40-50% of patients
Cardiomyopathy
(cardiovascular)Weakened heart muscle function due to lipid accumulation in cardiac tissue.
Frequency: 15-25% of patients
Metabolic acidosis
(constitutional)Buildup of acidic byproducts causing blood pH imbalance and respiratory compensation.
Frequency: 50-60% of patients
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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Medium-Chain Triglyceride Supplementation
MCT oil supplementation provides an alternative energy source that bypasses defective metabolic pathways, reducing dicarboxylic acid accumulation.
Low-Fat Modified Diet
Reducing dietary fat intake decreases the workload on fatty acid oxidation pathways, helping manage elevated dicarboxylic acids.
Additional treatment options
Metabolic and Growth Monitoring
Regular assessment of metabolic markers, growth parameters, and developmental milestones to ensure adequate response to dietary interventions.
monitoringAvoidance of Fasting and Metabolic Stress
Preventing prolonged fasting states and metabolic stress through regular meal patterns reduces dicarboxylic acid production.
lifestyleL-Carnitine Supplementation
Carnitine supports mitochondrial fatty acid metabolism and may help reduce accumulation of dicarboxylic acids in some metabolic disorders.
medicationWhen 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 Abnormal Circulating Dicarboxylic Acid Concentration C5139055?
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.
Rinaldo P, Cowan TM, Matern D. Acylcarnitine profile analysis. Genet Med. 2008;10(2):151-156.
Fischer K, Smeitink JA, van Spronsen FJ, et al. MADD-like diseases. Handb Clin Neurol. 2023;192:391-408.
American College of Medical Genetics and Genomics. Newborn screening ACT sheets and algorithms. 2022.
Watson MS, Lloyd-Puryear MA, Mann MY, Rinaldo P, Howell RR. Newborn screening: toward a uniform screening panel and system. Genet Med. 2006;8(Suppl 1):1S-252S.
Wanders RJ, Vreken P, Den Boer ME, Wijburg FA, Van Gennip AH, IJlst L. Disorders of mitochondrial fatty acid beta-oxidation and ketone body utilization. J Inherit Metab Dis. 2002;25(6):477-489.
Saudubray JM, van den Berghe G, Walter JH. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th ed. Springer; 2016.
Chiang DM, Lin KP, Kuo SJ, Hwu WL. Multiple acyl-CoA dehydrogenase deficiency: a case report and literature review. Medicine (Baltimore). 2018;97(35):e12156.
Kölker S, Cacciola A, Cohen B, et al. European guideline and recommendations for the diagnosis and treatment of intermediate chain fatty acid oxidation disorders. J Inherit Metab Dis. 2024;47(1):5-24.
Sperl W, Ruitenbeek W, Sengers RC, et al. Embryonic fatty acid metabolism: implications for inherited mitochondrial fatty acid oxidation disorders. J Inherit Metab Dis. 1992;15(4):565-580.
Venditti CP. Molecular therapy for fatty acid oxidation disorders: a 2023 update. J Inherit Metab Dis. 2023;46(2):143-158.
Medication 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