Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.4.2.7 (
adenine phosphoribosyltransferase
)
692
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
An automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography (HPLC) with column switching is described. The system consists of a reversed-phase column, a cation-exchange column, a column switch, four sets of ultraviolet absorbance detectors, a microcomputer and other conventional equipment. As this system permits the simultaneous determination of urinary orotic acid, uracil, dihydrouracil, pseudouridine, xanthine, 2,8-dihydroxyadenine and succinyladenosine, it offers a useful method for the detection of orotic aciduria,
dihydropyrimidine dehydrogenase
deficiency, dihydropyrimidinuria, xanthinuria,
adenine phosphoribosyltransferase
deficiency and adenylosuccinase deficiency.
...
PMID:Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography. 858 Nov 29
A metabolomic analysis of plasma amino acids and acylcarnitines was applied to four disorders of nucleotide metabolism. Multivariate analysis gave score plots that show segregation of hypoxanthine phosphoribosyltransferase and
adenine phosphoribosyltransferase
deficient plasma from controls with equivocal results for adenosine deaminase and
dihydropyrimidine dehydrogenase
deficiencies. Loadings plots revealed the principal metabolites responsible for the discrimination between these classes. There were increases for HPRT in C4-, C6-, and C3-DC (malonyl)-carnitines, and decreased serine. For
APRT
there were increases in C4- to C10- and C3-DC to C6-DC-carnitines, urea, 1-methylhistidine, 3-methylhistidine, and decreased tryptophan. For ADA deficiency there were increases in C4- and C6-carnitines, taurine, and isoleucine.
...
PMID:Application of metabolomic principles to disorders of nucleotide metabolism reveals new metabolic perturbations. 1860 May 20
