TY - JOUR JO - Reumatologia/Rheumatology SN - 0034-6233 VL - 50 IS - 4 PY - 2012 ID - Zatkova2012 TI - Genetic background of alkaptonuria, a prototypic inborn error of metabolism affecting connective tissues AB - Alkaptonuria (AKU) is characterised by a typical bluish-black pigmentation in connective tissue (ochronosis) that usually occurs after the age of 30 years. AKU is the first inborn error of metabolism to be understood as a recessive trait. It is caused by mutations within the gene located on the human chromosome 3q13.33, co-ding for the enzyme homogentisate 1,2-dioxygenase (HGD). About 650 AKU patients have been reported worldwide, and mutation analysis performed so far in about 270 cases shows a rather high heterogeneity, since 117 AKU-causing mutations have been found, also summarized in a novel HGD mutation database. Several ethnicities have been reported in which an increased inciden-ce of AKU is observed, compared to its worldwide low prevalence (1 : 250 000 – 1 : 1 000 000). AU - Zatkova, Andrea AU - Radvanszky, Jan AU - Kadasi, Ludevit SP - 307 EP - 315 DA - 2012 UR - https://www.termedia.pl/Genetic-background-of-alkaptonuria-a-prototypic-inborn-error-of-metabolism-affecting-r-nconnective-tissues,18,19225,1,1.html ER -