Alkaptonuria
Nature Reviews Disease Primers, Published online: 07 March 2024; doi:10.1038/s41572-024-00498-x
Alkaptonuria is a rare metabolic disease that has multisystemic and debilitating effects. In this Primer, Bernardini et al. summarize current knowledge of epidemiology and mechanisms, and discuss diagnosis, management and quality of life of patients with this disorder. They also highlight outstanding research questions.