Inborn errors of purine-pyrimidine metabolism
- Inborn errors of purine-pyrimidine metabolism
Inborn errors of purine-pyrimidine metabolism are a class of inborn error of metabolism disorders specifically affecting purine metabolism and pyrimidine metabolism.
An example is Lesch-Nyhan syndrome.
Urine tests may be of use in identifying some of these disorders.[cite journal |author=Wevers RA, Engelke UF, Moolenaar SH, "et al" |title=1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism |journal=Clin. Chem. |volume=45 |issue=4 |pages=539–48 |year=1999 |month=April |pmid=10102915 |doi= |url=http://www.clinchem.org/cgi/pmidlookup?view=long&pmid=10102915 |accessdate=2008-05-07] ]References
Wikimedia Foundation.
2010.
Look at other dictionaries:
Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 … Wikipedia
metabolism — /meuh tab euh liz euhm/, n. 1. Biol., Physiol. the sum of the physical and chemical processes in an organism by which its material substance is produced, maintained, and destroyed, and by which energy is made available. Cf. anabolism, catabolism … Universalium
Lesch–Nyhan syndrome — Lesch Nyhan syndrome Classification and external resources ICD 10 E79.1 ICD 9 277.2 … Wikipedia
Gout — Podagra redirects here. For the moth genus, see Podagra (moth). Gout Classification and external resources Gout, a 1799 caricature by James Gillray … Wikipedia
Adenosine Monophosphate Deaminase Deficiency type 1 — Classification and external resources Adenosine monophosphate OMIM 102770 … Wikipedia
Orotic aciduria — Classification and external resources orotic acid ICD 9 281 … Wikipedia
Miller syndrome — Classification and external resources OMIM #263750 This condition is also known as the Genee Wiedemann syndrome, Wildervanck Smith syndrome or postaxial acrofacial dystosis (POADS). The incidence of this condition is not known but it is… … Wikipedia
Dihydropyrimidine dehydrogenase deficiency — Classification and external resources OMIM 274270 DiseasesDB 29817 MeSH … Wikipedia
Mitochondrial neurogastrointestinal encephalopathy syndrome — Classification and external resources ICD 9 277.87 OMIM 603041 … Wikipedia
Occipital horn syndrome — Classification and external resources OMIM 304150 DiseasesDB 33413 Occipital horn syndrome (OHS), formerly considered a variant of Eh … Wikipedia
