Abnormal Circulating Long Chain Fatty Acid Concentration C5139650
Long-chain fatty acids are a type of fat. Abnormal levels can affect energy production in cells. Treatment typically involves dietary modifications and specialized care.
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
Hypoglycemia
Low blood sugar levels causing shakiness, sweating, confusion, and hunger, typically occurring after periods without food.
Seek immediate care if blood sugar drops severely, causing fainting, seizures, or extreme confusion.
Seizures
Sudden, uncontrolled electrical disturbances in the brain causing convulsions, loss of consciousness, or abnormal movements.
This is a medical emergency. Seek immediate emergency care for any seizure lasting more than 5 minutes or if it's the first occurrence.
Cardiomyopathy
Disease of the heart muscle that can cause heart enlargement, weakness, or irregular heartbeat.
Seek immediate care if experiencing chest pain, severe shortness of breath, fainting, or rapid heartbeat.
Generalized Fatigue and Weakness
(constitutional)Persistent tiredness and lack of energy that interferes with daily activities, often worsening during fasting or illness.
Frequency: 70-80% of patients
Nausea and Vomiting
(gastrointestinal)Feeling sick to the stomach and vomiting, which may occur intermittently or after eating certain foods.
Frequency: 40-50% of patients
Muscle Pain and Weakness
(musculoskeletal)Aching, tenderness, or weakness in muscles, especially after physical activity or during illness.
Frequency: 35-45% of patients
Enlarged Liver
(gastrointestinal)Abnormal enlargement of the liver, often detectable during physical examination, sometimes with associated liver enzyme elevation.
Frequency: 30-40% of patients
Encephalopathy
(neurologic)Brain dysfunction causing confusion, altered mental state, difficulty concentrating, or personality changes.
Frequency: 5-10% of patients
Difficulty Breathing
(respiratory)Shortness of breath or rapid breathing, especially during illness or metabolic stress.
Frequency: 15-20% 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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Low long-chain fatty acid diet
Restriction of dietary long-chain fatty acids with increased intake of medium-chain triglycerides, which are more easily absorbed and metabolized without requiring carnitine transport.
L-carnitine supplementation
Carnitine supplementation may improve fatty acid oxidation when deficiency is contributing to abnormal fatty acid concentrations.
Additional treatment options
Regular lipid panel monitoring
Serial measurements of circulating fatty acid levels to assess treatment efficacy and guide dietary adjustments.
monitoringMedium-chain triglyceride oil supplementation
Addition of MCT oil to diet provides an easily metabolizable energy source that bypasses the carnitine-dependent fatty acid transport system.
complementaryStructured meal timing
Regular meal patterns with consistent carbohydrate intake help maintain stable fatty acid metabolism and prevent prolonged fasting states.
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 Abnormal Circulating Long Chain Fatty Acid Concentration C5139650?
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.
American College of Medical Genetics and Genomics. Newborn screening ACT sheets and algorithms. ACMG, 2023.
FDA. Draft guidance for industry: newborn screening tests for rare metabolic disorders. U.S. Food and Drug Administration, 2022.
Knottnerus SJG, Bleeker JC, Wust RCI, et al. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle. J Inherit Metab Dis. 2018;41(5):765-776.
Merritt JL 2nd, Norris M, Kanungo S. Fatty acid oxidation disorders. Ann Transl Med. 2018;6(24):473.
American Academy of Pediatrics. Newborn screening for metabolic disorders: current standards and recommendations. Pediatrics. 2022;149(3):e2021053023.
Saudubray JM, Mochel F. The diagnosis of fatty acid oxidation disorders: a consensus-based approach. J Inherit Metab Dis. 2019;42(2):306-319.
Prasun P. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. In: GeneReviews. University of Washington, 2020.
Spieker EA, Hinton K, PQ. Clinical outcomes in fatty acid oxidation disorders: a systematic review. Mol Genet Metab. 2021;133(2):123-134.
Medication Comparisons
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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