What is Alkaptonuria (AKU)?
Alkaptonuria (AKU) is a rare autosomal recessive disorder resulting from homogentisate 1,2-dioxygenase (HGD) deficiency, an enzyme involved in Tyrosine and Phenylalanine metabolism. This defect leads to homogentisic acid (HGA) accumulation which causes discoloration of bone (a process called “ochronosis”) and induces early-onset osteoarthritis. AKU is a painful and degenerative disease and has also been linked to heart disease and kidney stones. The ApreciseKUre database is stratified into different layers regarding genotype, biomarkers, environment, lifestyle, habit, histopathologic, clinical and therapies of patients. ApreciseKUre dataset.
For more information about AKU visit aimAKU and HGD mutation database.
Precision Medicine in AKU
Precision medicine (PM) is an emerging approach for the study of diseases based on individual variability in genes, environment, and lifestyle to customize different illness courses. For PM application to rare diseases like AKU, collecting as much information as possible about each patient, not overlooking apparently ordinary factors, is crucial. Here, genetic, proteic, biochemical, histopathologic and clinical data about AKU patients are organized as database and freely available. Indeed, researchers, clinicians and patients can easily access the information, as well as being able to insert new data or updating entries. Furthermore, this integral database aims to the discovery of new Alkaptonuria biomarkers, thanks to a refreshable correlation system.
Statistics
Table with frequencies (allele presences / 2n AKU population numbers) found for each HLA allele belonging to loci B and DRB1 in comparison with those of the entire Italian population of marrow donors (normal controls). In AKU population, the most common alleles are: HLA-B * 13, * 40, * 41, * 44, * 49, * 53, * 58; and DRB1 *04, *08 e *11. RR=hypothetical relative risk (that becomes interesting if greater than 1).
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Visit ApreciseKUre database: Visit aimAKU website:
