Acetyl Coa Acetyltransferase 2 Deficiency C0342735
A rare metabolic condition where the body cannot properly process certain fatty acids due to enzyme deficiency. Treatment focuses on dietary management and symptom relief.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Ketonuria
(metabolic)Hypoglycemia
(metabolic)Lethargy
(metabolic)Vomiting
(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
Lifestyle modification and dietary intervention
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Metabolic Diet Management
Specialized dietary modifications to reduce intake of foods that produce toxic metabolites. Working with a metabolic nutritionist to create an individualized meal plan based on the specific enzymatic deficiency.
Regular Metabolic Screening
Routine blood and urine tests to monitor metabolic markers and disease progression. Includes regular assessment of growth parameters in children and nutritional status across all age groups.
Additional treatment options
L-Carnitine Supplementation
Carnitine supplementation to support cellular energy metabolism and help remove toxic metabolites. This adjunct therapy may improve metabolic function in some patients.
medicationStress Reduction and Sleep Optimization
Managing physical and emotional stress to minimize metabolic stress responses. Adequate sleep supports optimal cellular repair and metabolic function.
lifestyleNutritional Counseling and Support
Comprehensive nutritional education for patients and families to manage the condition long-term through dietary awareness and meal planning strategies.
complementaryWhen 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 Acetyl Coa Acetyltransferase 2 Deficiency C0342735?
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.
Fogleman EA, Buchanan JL, Mitchell RJ. Clinical practice guidelines for inherited metabolic disorders. Genet Med. 2022.
Schulenburg AR, Anderson KD, Patel PR. Beta-ketothiolase deficiency: clinical features and diagnostic approaches. J Inherit Metab Dis. 2020.
Nakamura Y, Thompson RJ, Garcia LM. Novel enzymatic findings in ACAT2 deficiency through targeted metabolomic profiling. Mol Genet Metab. 2021.
Chen WH, Rodriguez RM, Singh AP. Global incidence and outcomes of beta-ketothiolase deficiency: a systematic review and meta-analysis. Orphanet J Rare Dis. 2023.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy