Disease

Alkaptonuria1, 2, 3

Gene

HGD

Inheritance AR
Current Treatments Nitisinone, diet
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test urinary homogentisic acid4
Disease Frequency (per 100,000) 0.254
Genes Included in Disease Frequency HGD
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Alkaptonuria&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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