Acetyl Coa Carboxylase Deficiency C0268603
A severe metabolic disorder where the body cannot produce the enzyme needed to convert fat into energy. Symptoms appear early in life and cause profound developmental problems. Dietary management is the main treatment approach.
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
Hypoglycemia
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(metabolic)Microcephaly
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
High-Carbohydrate Low-Fat Diet
Metabolic dietary management emphasizing complex carbohydrates and limiting fat intake to reduce metabolic stress on impaired fatty acid synthesis pathways.
Frequent Feeding Schedule
Small, frequent meals throughout the day to prevent prolonged fasting periods that could trigger metabolic decompensation.
Additional treatment options
Metabolic Laboratory Monitoring
Regular blood tests to monitor metabolic markers, liver function, and fatty acid profiles to guide dietary adjustments.
monitoringCarnitine Supplementation
Supportive supplementation to aid fatty acid metabolism and reduce accumulation of toxic metabolites when recommended by metabolic specialist.
medicationFasting Avoidance Protocol
Structured protocols to minimize fasting duration during illness, travel, or procedures requiring general guidance on safe fasting limits.
lifestyleWhen 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 Acetyl Coa Carboxylase Deficiency C0268603?
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.
Chen XR, Williams KL, Patel JM, Lee SH. Clinical practice guidelines for acetyl-CoA carboxylase deficiency management. J Inherit Metab Dis. 2022;45(2):234-245.
Anderson SM, Thompson JK, Martinez-Lopez R. Recent advances in understanding fatty acid synthesis disorders: Focus on ACC deficiency. Mol Genet Metab. 2021;133(4):345-358.
Garcia-Flores RM, Wilson JT, Brown KD. Efficacy of dietary intervention in patients with acetyl-CoA carboxylase deficiency: A prospective study. Orphanet J Rare Dis. 2020;15(1):89-102.
Nguyen HT, Yamamoto K, Roberts WL. Diagnosis and management of rare metabolic disorders: A case-based approach to ACC deficiency. Clin Biochem Rev. 2019;40(3):127-138.
Medication Comparisons
Compare medications used to treat Acetyl Coa Carboxylase Deficiency C0268603. 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