AICA-ribosiduria

Definition:

AICA-ribosiduria is a neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Defects of purine metabolism are characterised by abnormal concentrations of substrates of defective enzymes and/or their metabolites in cells or body fluids.

References:

[1]. Petr Hornik, et al. Diagnosing AICA-ribosiduria by capillary electrophoresis. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Oct 20;843(1):15-9. [Content Brief]

[2]. Sandrine Marie, et al. AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am J Hum Genet. 2004 Jun;74(6):1276-81. [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.