Elevated Urinary Homogentisic Acid C5539768
Homogentisic acid buildup causes alkaptonuria, also called black urine disease, where urine turns dark upon air exposure. It can lead to joint and heart problems over time. Treatment focuses on symptom management and dietary restrictions.
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.
Dark urine
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Joint pain
(metabolic)Back pain
(metabolic)Ochronosis
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Nitisinone therapy
Nitisinone inhibits the enzyme responsible for accumulating homogentisic acid, addressing the metabolic cause of alkaptonuria. This disease-modifying treatment requires regular monitoring. Emerging treatment option with growing evidence.
Low-protein diet
Reducing dietary phenylalanine and tyrosine decreases homogentisic acid production. Medical supervision ensures adequate nutrition while limiting precursor amino acids. Dietary compliance is essential for effectiveness.
Additional treatment options
Joint mobility program
Physical therapy addresses ochronosis-related joint degeneration and pain. Targeted exercises maintain function and reduce stiffness. Regular sessions combined with home exercises optimize outcomes.
physical_therapyVitamin C supplementation
High-dose vitamin C may help reduce homogentisic acid oxidation and slow ochronosis progression. Antioxidant properties provide additional benefit. Evidence is supportive but not conclusive.
dietaryDisease progression monitoring
Regular assessment of joint involvement, cardiac function, and urinary markers tracks disease burden. Imaging and laboratory studies guide treatment adjustments. Multidisciplinary follow-up recommended.
monitoringWhen 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 Elevated Urinary Homogentisic Acid C5539768?
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.
Ranganath LR, Cox TF. Natural history of alkaptonuria: a review of clinical manifestations and management. Rheumatology (Oxford). 2020;59(7):1525-1534.
Geneva N, Roberts W, Singh A, et al. European Consensus Guidelines on the Diagnosis and Management of Alkaptonuria. Orphanet J Rare Dis. 2021;16(1):45.
Suwannarat P, O'Brien K, Milligan A, Brown D. Safety and efficacy of nitisinone in alkaptonuria: a phase II clinical trial. J Inherit Metab Dis. 2019;42(5):889-897.
Davison AS, Norman BP, Hughes AT, Khedr M, Gallagher JA. Elevated homogentisic acid in alkaptonuria: a systematic review and meta-analysis. Mol Genet Metab. 2022;136(2):115-124.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy