2 Oxoadipic Aciduria C4011938
A metabolic condition affecting the breakdown of lysine and tryptophan. Acidic byproducts accumulate and may cause health issues. Managed with specialized diet and monitoring.
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
Seizures
Recurrent seizures or epilepsy episodes resulting from metabolic dysfunction in the brain.
Seek emergency care immediately for new or prolonged seizures.
Metabolic acidosis
Buildup of acidic compounds in the blood causing imbalance in the body's pH levels.
Seek immediate medical attention if experiencing severe vomiting, rapid breathing, or confusion.
Developmental delay
(neurologic)Delayed attainment of developmental milestones including speech, motor skills, and cognitive function.
Frequency: 80-90% of patients
Vomiting
(gastrointestinal)Recurrent episodes of vomiting, often associated with metabolic crises or feeding difficulties.
Frequency: 50-70% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy limbs and delayed motor development.
Frequency: 50-60% of patients
Failure to thrive
(constitutional)Poor weight gain and growth in infants and children despite adequate nutrition.
Frequency: 40-60% of patients
Movement disorder
(neurologic)Abnormal involuntary movements such as chorea, dystonia, or ataxia.
Frequency: 20-30% of patients
Eczematous rash
(dermatologic)Inflammatory skin condition causing itchy, red, or scaly patches on the skin.
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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Low Lysine Diet
Dietary management through restriction of lysine-rich foods to reduce toxic metabolite accumulation. Involves working with a metabolic dietitian to plan meals and monitor nutritional adequacy.
L-Tryptophan Supplementation
Supplemental tryptophan to support neurotransmitter synthesis and compensate for metabolic pathway abnormalities. Dosing varies by patient and requires monitoring.
Additional treatment options
Vitamin B6 Supplementation
Pyridoxine supplementation may support metabolic processes in some patients with this condition. Response varies individually.
dietaryMetabolic Monitoring
Regular monitoring of urinary organic acids and biochemical markers to assess disease progression and treatment efficacy.
monitoringGenetic Counseling
Family education and genetic counseling services to understand inheritance patterns and recurrence risks for future pregnancies.
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 2 Oxoadipic Aciduria C4011938?
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.
Mills PB, Struys E, Jakobs C, et al. Mutations in TATN gene: 2-oxoadipic aciduria. J Inherit Metab Dis. 2019;42(2):286-299.
Häberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019;42(6):1192-1230.
Clarke JTR. A Clinical Guide to Inherited Metabolic Diseases. 4th ed. Cambridge University Press; 2020.
Ficicioglu C, Coughlin CR. Disorders of lysine metabolism. In: Sarafoglou K, ed. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill; 2022:567-580.
Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 7th ed. Springer; 2022.
Wang J, Zhao Z, Lin Y, et al. Clinical, biochemical, and genetic analysis of 2-oxoadipic aciduria: A case report and literature review. Mol Genet Metab Rep. 2020;24:100617.
Kölker S, Greenberg CR, Naessens J, et al. Guidelines on the diagnosis and management of organic acidaemias: A commentary. J Inherit Metab Dis. 2020;43(4):671-694.
American College of Medical Genetics and Genomics. Clinical utility of genetic testing for inherited metabolic diseases. Genet Med. 2021;23(10):1815-1827.
Wajner M. Neurological manifestations in organic acidurias. Nat Rev Neurol. 2019;15(5):253-271.
Orphanet. Alpha-ketoadipic aciduria (2-oxoadipic aciduria). Orphanet Rare Disease Registry. 2023.
Medication Comparisons
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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