3 Hydroxydicarboxylic Aciduria C4024725
A metabolic disorder affecting how the body processes certain fatty acids. Harmful acids can build up and may cause health issues. Treated with diet modifications and supportive 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
Metabolic acidosis
Buildup of acidic compounds in the blood due to impaired fatty acid metabolism, causing blood pH to drop below normal levels.
Seek immediate medical attention if experiencing confusion, rapid breathing, or extreme fatigue, as severe acidosis can be life-threatening.
Hypoglycemia
Abnormally low blood sugar levels due to impaired gluconeogenesis and fatty acid oxidation pathways.
Seek emergency care if experiencing shakiness, confusion, loss of consciousness, or seizures due to low blood sugar.
Seizures
Episodes of uncontrolled electrical activity in the brain, ranging from mild to severe convulsive events.
Seek emergency medical care immediately for any seizure lasting more than 5 minutes or if it's the first occurrence.
Recurrent vomiting
(gastrointestinal)Persistent vomiting episodes, often occurring during metabolic crisis periods when toxin accumulation is highest.
Frequency: 50-60% of patients
Developmental delay
(neurologic)Slowed progression of motor skills, speech, and cognitive development compared to typical age milestones.
Frequency: 50-60% of patients
Failure to thrive
(constitutional)Inadequate weight gain and growth velocity in infants and children despite adequate caloric intake.
Frequency: 50-70% of patients
Lethargy
(constitutional)Persistent fatigue, excessive sleepiness, and reduced activity levels, often worsening during metabolic decompensation.
Frequency: 60-70% of patients
Hepatomegaly
(gastrointestinal)Enlarged liver due to fatty infiltration and metabolic dysfunction in hepatic cells.
Frequency: 20-30% of patients
Muscle weakness
(neurologic)Reduced muscle strength and endurance due to impaired energy metabolism in muscle tissues.
Frequency: 15-25% 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.
Medium Chain Triglyceride (MCT) Supplementation
MCTs provide an alternative energy source that bypasses the defective fatty acid oxidation pathway. This dietary intervention helps reduce accumulation of toxic 3-hydroxydicarboxylic acid metabolites.
Low-Fat Diet with Complex Carbohydrate Emphasis
Reducing long-chain fatty acid intake while increasing complex carbohydrate consumption helps minimize metabolic stress on impaired fatty acid oxidation pathways.
Additional treatment options
Regular Metabolic Monitoring
Periodic assessment of urinary organic acids, blood acylcarnitine profiles, and liver function tests to track disease progression and treatment efficacy.
monitoringAvoidance of Fasting and Metabolic Stress
Implementing regular feeding schedules and avoiding prolonged fasting states prevents metabolic decompensation episodes that can trigger acute symptoms.
lifestyleL-Carnitine Supplementation
L-Carnitine supports mitochondrial function by facilitating the transport of fatty acids and may help reduce toxic metabolite accumulation in some patients.
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 3 Hydroxydicarboxylic Aciduria C4024725?
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 confirmatory algorithms. ACMG, 2023.
Spiekerkoetter U, Lindner M, Santer R, et al. Management and outcome in 75 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2009;32(4):488-497.
Saudubray JM, Baumgartner MR, García-Cazorla A. Inborn Metabolic Diseases: Diagnosis and Treatment. 7th ed. Springer; 2022.
Vockley J, Whiteman DA, Hattrup SJ, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical, biochemical and molecular characterization. Mol Genet Metab. 2002;77(1-2):79-85.
Saudubray JM, Couce ML, FitzMaurice B, et al. Inborn Metabolic Diseases: A Practical and View from the Gate. J Inherit Metab Dis. 2022;45(1):3-33.
Arnold GL, Van Hove J, Freedenberg D, et al. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2009;96(3):85-90.
Faure R, Hatt A, Mathieu S, et al. Dicarboxylic aciduria: relevance to diagnosis and follow-up of fatty acid oxidation disorders. Arch Dis Child. 2021;106(12):1194-1198.
WHO. Technical Report Series 1017: WHO Guidelines on Selected Issues for Prevention, Detection, and Management of Rare Diseases. Geneva: World Health Organization; 2019.
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 25, 2026. · Read our editorial policy