REVIEW PAPER
Genetic background of alkaptonuria, a prototypic inborn error of metabolism affecting
connective tissues
Online publication date: 2012-09-07
Reumatologia 2012;50(4):307-315
KEYWORDS
ABSTRACT
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).
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