Alkaptonuria — Research Summary
Printed from RareWays (rareways.com.au) on 18 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Cerebral Regional Oxygen Saturation Monitoring Using ForeSight in a Patient with Alkaptonuria Undergoing Aortic Valve Replacement.
Sunami Shogo et al. — Journal of cardiothoracic and vascular anesthesia (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42265022/
- 2.
Architecture and dynamics of a supramolecular oxygen transport system in human homogentisate 1,2-Dioxygenase.
Trezza Alfonso et al. — Journal of structural biology (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42276179/
- 3.
A case of alkaptonuria diagnosed after hip arthroplasty.
Jiang Qingbing et al. — Clinical rheumatology (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42550357/
- 4.
Deciphering and improving human homogentisate 1,2-dioxygenase function through knowledge gaining directed evolution: implications for alkaptonuria.
Lequeue Sien et al. — International journal of biological macromolecules (28 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42665142/
- 5.
Plasma and urinary NMR metabolic profiling of the phenylalanine-tyrosine pathway in nitisinone-treated alkaptonuria: comparison of two dosing regimens and identification of a candidate pharmacodynamic biomarker.
Grasso Daniela et al. — Molecular genetics and metabolism (28 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42685651/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Alkaptonuria
Alkaptonuria is a rare inherited metabolic condition in which the body cannot fully break down an amino acid by-product called homogentisic acid. The acid builds up and stains cartilage and other connective tissue a dark colour, leading to early arthritis of the spine and large joints, and darkened urine. Care includes pain relief, physiotherapy, joint surgery when needed, and a medicine called nitisinone that lowers homogentisic acid levels.
Most Recent Research
Common Questions
What is Alkaptonuria?
Alkaptonuria is a rare inherited metabolic condition in which the body cannot fully break down an amino acid by-product called homogentisic acid. The acid builds up and stains cartilage and other connective tissue a dark colour, leading to early arthritis of the spine and large joints, and darkened urine. Care includes pain relief, physiotherapy, joint surgery when needed, and a medicine called nitisinone that lowers homogentisic acid levels.
How many clinical trials are available for Alkaptonuria?
RareWays currently indexes 7 clinical trials for Alkaptonuria, of which 1 is actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Alkaptonuria come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
Get research updates
Monthly email when new findings are published for Alkaptonuria.
No spam. Unsubscribe any time. Not medical advice.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.