Alkaptonuria

Definition:

Alkaptonuria is a rare, inherited defect of homogentisic acid 1,2-dioxygenase that leads to the widespread deposition of polymeric homogentisic acid, and clinical symptoms from degeneration of joints and the aortic valve.

References:

[1]. B N La Du Jr, et al. Are we ready to try to cure alkaptonuria?. Am J Hum Genet. 1998 Apr;62(4):765-7. [Content Brief]

[2]. J M Fernández-Cañón, et al. The molecular basis of alkaptonuria. Nat Genet. 1996 Sep;14(1):19-24. [Content Brief]

[3]. T R Helliwell, et al. Alkaptonuria--a review of surgical and autopsy pathology. Histopathology. 2008 Nov;53(5):503-12. [Content Brief]

[4]. Timothy M Cox, et al. Alkaptonuria: leading to the treasure in exceptions. JIMD Rep. 2012;5:49-57. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.