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:2.4.2.8 (
hypoxanthine-guanine phosphoribosyltransferase
)
2,527
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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
