Abstract
BackgroundAlkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure to air and also leads to ochronosis as well as early osteoarthritis.Main body of the abstractOur objective is the implementation of a Precision Medicine (PM) approach to AKU. We present here a novel ApreciseKUre database facilitating the collection, integration and analysis of patient data in order to create an AKU-dedicated “PM Ecosystem” in which genetic, biochemical and clinical resources can be shared among registered researchers. In order to exploit the ApreciseKUre database, we developed an analytic method based on Pearson’s correlation coefficient and P value that generates as refreshable correlation matrix. A complete statistical analysis is obtained by associating every pair of parameters to examine the dependence between multiple variables at the same time.Short conclusionsEmploying this analytic approach, we showed that some clinically used biomarkers are not suitable as prognostic biomarkers in AKU for a more reliable patients’ clinical monitoring. We believe this database could be a good starting point for the creation of a new clinical management tool in AKU, which will lead to the development of a deeper knowledge network on the disease and will advance its treatment. Moreover, our approach can serve as a personalization model paradigm for other inborn errors of metabolism or rare diseases in general.
Highlights
Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902
We believe this database could be a good starting point for the creation of a new clinical management tool in AKU, which will lead to the development of a deeper knowledge network on the disease and will advance its treatment
Our approach can serve as a personalization model paradigm for other inborn errors of metabolism or rare diseases in general
Summary
Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. We present here a novel ApreciseKUre database facilitating the collection, integration and analysis of patient data in order to create an AKU-dedicated “PM Ecosystem” in which genetic, biochemical and clinical resources can be shared among registered researchers. The ability to collect, integrate and analyse relevant data streams is the core for developing a “Precision Medicine Ecosystem” in which genetic, biochemical and clinical resources are shared between researchers, clinicians and patients [2]. AKU is an autosomal recessive inborn error of metabolism of the amino acids tyrosine due to a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD) This leads to the accumulation of homogentisic acid (HGA, 2,5-dihydroxyphenylacetic acid) which is excreted in the urine, giving it an unusually dark colour. Aortic valve stenosis was reported, as well as kidney and
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