Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry.
Houston, United States. In Methods Mol Biol, Dec 2015
Inborn errors of purine metabolism, either deficiencies of synthesis or catabolism pathways, lead to a wide spectrum of clinical presentations: urolithiasis (adenine phosphoribosyltransferase), primary immune deficiency (adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency), severe intellectual disability, and other neurological symptoms (Lesch-Nyhan disease, adenylosuccinase deficiency, and molybdenum cofactor deficiency).
Adenine Phosphoribosyltransferase Deficiency
Seattle, United States. In Unknown Journal, 2012
CLINICAL CHARACTERISTICS: Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production of 2,8-dihydroxyadenine (DHA), which is excreted in the urine, where it is poorly soluble and leads to kidney stone formation and chronic kidney disease (CKD).
Adenine phosphoribosyltransferase deficiency.
Paris, France. In Clin J Am Soc Nephrol, 2012
Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine.
[2,8-dihydroxyadenine urolithiasis: case report and literature review].
Novara, Italy. In Urologia, 2011
INTRODUCTION: 2,8-Dihydroxyadenine (DHA) urolithiasis is a rare type of urinary stone disease secondary to deficiency of adenine phosphoribosyltransferase (APRT) activity, a rare, inherited autosomal recessive disease with an incidental rate from 0.4 to 1.2%.
DNA methylation represses transcription in vivo.
Jerusalem, Israel. In Nat Genet, 1999
Sp1-like elements have a key role in protecting the CpG island of Aprt (encoding adenine phosphoribosyltransferase) from de novo methylation, and when these elements are specifically mutated, the Aprt CpG island becomes methylated in transgenic mice.
DNA demethylation in vitro: involvement of RNA.
Jerusalem, Israel. In Cell, 1996
It is likely that this represents the in vivo mechanism, as well, since extracts from L8 myoblasts specifically demethylate an alpha-actin gene, while extracts from F9 teratocarcinoma cells specifically demodify the Aprt CpG island.