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01-12-2011 | Alkaptonuria

An update on molecular genetics of Alkaptonuria (AKU)

Author: Andrea Zatkova

Published in: Journal of Inherited Metabolic Disease | Issue 6/2011

Abstract

Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGD) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis. The defect is caused by mutations in the HGD gene, which maps to the human chromosome 3q21–q23. AKU shows a very low prevalence (1:100,000–250,000) in most ethnic groups, but there are countries such as Slovakia and the Dominican Republic in which the incidence of this disorder rises to as much as 1:19,000. In this work, we summarize the genetic aspects of AKU in general and the distribution of all known disease-causing mutations reported so far. We focus on special features of AKU in Slovakia, which is one of the countries with an increased incidence of this rare metabolic disorder.

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Title: An update on molecular genetics of Alkaptonuria (AKU)
Author: Andrea Zatkova
Publication date: 01-12-2011
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 6/2011
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-011-9363-z

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