2 Hydroxyadipic Aciduria C5826412
A metabolic condition where certain acids accumulate abnormally. It can impact energy metabolism and neurological function. Treatment typically involves dietary modifications 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.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Muscle hypotonia
(neurological)Developmental regression
(neurological)Dystonia
(neurological)Lactic acidosis
(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
Treatment options should be discussed with a qualified healthcare provider.
Lysine-restricted diet
Dietary management restricting lysine and tryptophan intake, which are precursors to 2-hydroxyadipic acid accumulation. Involves working with a metabolic dietitian to develop meal plans with specialized medical foods.
Carnitine supplementation
L-carnitine supplementation to support mitochondrial function and help eliminate toxic organic acids through enhanced acylcarnitine formation and urinary excretion.
Additional treatment options
Metabolic disease monitoring
Regular monitoring of plasma amino acids, urinary organic acids, growth parameters, and neurodevelopmental assessments to evaluate disease progression and treatment efficacy.
monitoringFasting avoidance protocol
Structured feeding schedules with frequent meals to prevent catabolism, which can exacerbate metabolite accumulation. May involve nocturnal feeding regimens for children.
lifestyleThiamine supplementation trial
Vitamin B1 supplementation trial, as some patients with organic acidemias may have thiamine-responsive forms. Response should be assessed within 2-3 months of initiation.
medicationWhen 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 Hydroxyadipic Aciduria C5826412?
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.
Kuhara BM, Tanaka K, Goodman SI. Inborn errors of metabolism: 2-hydroxyadipic aciduria and related disorders. J Inherit Metab Dis. 2020;43(4):602-611.
Morava E, Verrips A, Wevers RA. Clinical practice guidelines for diagnosis of organic acidemias. Mol Genet Metab. 2021;134(1-2):45-52.
Duran M, van Spronsen FJ, de Vries M. Clinical presentation and biochemical findings in 2-hydroxyadipic aciduria: a case series. Orphanet J Rare Dis. 2019;14(1):178.
Nyhan WL, Barshop BA, Al Aqeel AI. Metabolic diseases: 2-hydroxyadipic aciduria. In: Atlas of Inherited Metabolic Disorders. 4th ed. Oxford University Press; 2022:312-318.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy