Ontology highlight
ABSTRACT:
SUBMITTER: Vilboux T
PROVIDER: S-EPMC2830005 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
Vilboux Thierry T Kayser Michael M Introne Wendy W Suwannarat Pim P Bernardini Isa I Fischer Roxanne R O'Brien Kevin K Kleta Robert R Huizing Marjan M Gahl William A WA
Human mutation 20091201 12
Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder, characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction of cardiac valves. AKU is due to mutations in the homogentisate dioxygenase gene (HGD) that converts homogentisic acid to maleylacetoacetic acid in the tyrosine catabolic pathway. Here we report a comprehensive mutation analysis of 93 patients enrolled in our s ...[more]