Acyl Coa Dehydrogenase 9 Deficiency C4747517
A rare metabolic disorder where the body cannot break down certain fats for energy. It typically affects children and requires careful dietary management.
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.
Warning signs - seek immediate care
Cardiomyopathy
Seizures
Metabolic crisis
Developmental delay
(neurological)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
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
Avoidance of Fasting and Dietary Modifications
Frequent small meals with complex carbohydrates and controlled fat intake to prevent metabolic crisis from prolonged fasting periods.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
L-Carnitine Supplementation
Oral or intravenous carnitine to support fatty acid oxidation and remove accumulating acylcarnitine species from affected tissues.
Additional treatment options
Riboflavin Supplementation
High-dose B2 vitamin may support flavin cofactor availability for acyl-CoA dehydrogenase enzyme function.
medicationEmergency Protocol for Illness
Written action plan for parents and caregivers outlining glucose monitoring, dietary adjustments, and when to seek emergency care during illness or fasting.
lifestyleMetabolic Monitoring and Laboratory Surveillance
Regular monitoring of acylcarnitine profiles, liver function tests, and cardiac evaluation to assess disease progression and treatment response.
monitoringWhen 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 Acyl Coa Dehydrogenase 9 Deficiency C4747517?
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.
Spiekerkoetter U, Lindner M, Urhammer F, et al. Management of fatty acid oxidation disorders: a European consensus. J Inherit Metab Dis. 2019;42(4):657-671.
Haas RH, Parikh S, Falk MJ, et al. Mitochondrial disease: a practical approach for primary care physicians. Pediatrics. 2018;141(6):e20190648.
Schiff M, Haberberger J, Liang C, et al. Complex I deficiency and clinical presentation in ACAD9 deficiency. Mol Genet Metab. 2015;116(4):217-224.
Mayr JA, Zimmerman V, Régal L, et al. Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with ACAD9 mutations. Neurology. 2017;89(10):1028-1035.
Medication Comparisons
Compare medications used to treat Acyl Coa Dehydrogenase 9 Deficiency C4747517. 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