Subject area	Rare inborn error of metabolism
More specific subject area	Tyrosine pathway disorder, Alkaptonuria, AKUSSI, severity, nitisinone, homogentisic acid, natural history
Type of data	Radar charts and box plots
How data was acquired	Clinical assessments including subjective pain scoring, photographs, history, ultrasound abdomen, echocardiogram, dual energy x-ray absorptiometry, x-ray spine and PET-CT scan
Data format	Raw data
Experimental factors	Observations were made over 3 years before nitisinone and over 3 years after in a cohort of patients with Alkaptonuria.
Experimental features	Assessments and investigations were carried out over 5 visits to derive numerical scores, which were then used to calculate the Alkaptonuria Severity Score Index (AKUSSI).
Data source location	National AKU Centre (NAC) in Liverpool, UK
Data accessibility	Data is available in this manuscript
Related research article	Ranganath LR, Khedr M, Milan AM, Davison AS, Hughes AT, Usher JL, Taylor S, Loftus N, Daroszewska A, West E, Jones A, Briggs M, Fisher M, McCormick M, Judd S, Vinjamuri S, Griffin R, Psarelli EE, Cox TF, Sireau N, Dillon JP, Devine JM, Hughes G, Harrold J, Barton GJ, Jarvis JC, Gallagher JA. Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria:evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. Molecular Genetics and Metabolism 2018 (in press) [1].