Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Vlarska 5, 833 34, Bratislava, Slovakia.
J Inherit Metab Dis. 2011 Dec;34(6):1127-36. doi: 10.1007/s10545-011-9363-z. Epub 2011 Jul 1.
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.
尿黑酸尿症（AKU）是一种常染色体隐性遗传病，由 homogentisate 1,2 双加氧酶（HGD）缺乏引起，其特征为尿黑酸尿、褐黄病和褐黄病性关节炎。该缺陷是由 HGD 基因突变引起的，该基因定位于人类染色体 3q21-q23。AKU 在大多数种族中的患病率非常低（1:100,000-250,000），但在斯洛伐克和多米尼加共和国等国家，这种疾病的发病率高达 1:19,000。在这项工作中，我们总结了 AKU 的遗传方面，以及迄今为止报道的所有已知致病突变的分布。我们专注于在斯洛伐克的 AKU 的特殊特征，斯洛伐克是这种罕见代谢疾病发病率增加的国家之一。
