Editing Uric acid (section)

==Genetics==
Although foods such as meat and seafood can elevate serum urate levels, genetic variation is a much greater contributor to high serum urate.<ref name="pmid30305269">{{cite journal | last1=Major |first1=T. J. |last2=Topless |first2=R. K. |last3=Merriman |first3=T. R. | title=Evaluation of the diet wide contribution to serum urate levels: meta-analysis of population based cohorts | journal=[[The BMJ]] | volume=363 | pages=k3951 | year=2018 | doi = 10.1136/bmj.k3951 | pmc=6174725 | pmid=30305269}}</ref><ref name="pmid32620198">{{cite journal | author=Keenan |first=R. T. | title=The biology of urate | journal=Seminars in Arthritis and Rheumatism | volume=50 | issue=35| pages=S2–S10 | year=2020 | doi = 10.1016/j.semarthrit.2020.04.007  | pmid=32620198 |doi-access=free }}</ref> A proportion of people have mutations in the urate transport proteins responsible for the excretion of uric acid by the kidneys. Variants of a number of genes, linked to serum urate, have so far been identified: ''[[SLC2A9]]''; ''[[ABCG2]]''; ''[[SLC17A1]]''; ''[[SLC22A11]]''; ''[[SLC22A12]]''; ''[[SLC16A9]]''; ''[[GCKR]]''; ''[[LRRC16A]]''; and ''[[PDZK1]]''.<ref>{{cite journal |last1=Aringer |first1=M. |last2=Graessler |first2=J. |title=Understanding deficient elimination of uric acid |journal=Lancet |volume=372 |issue=9654 |pages=1929–1930 |date=December 2008 |pmid=18834627 |doi=10.1016/S0140-6736(08)61344-6|s2cid=1839089 }}</ref><ref name="Kolz_2009">{{cite journal |last1=Kolz |first1=M. |last2=Johnson |first2=T. |display-authors=etal | editor1-last=Allison | editor1-first=David B. |title=Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations | journal=PLOS Genet. |date=June 2009 | volume=5 | issue=6 | pmid=19503597 | doi=10.1371/journal.pgen.1000504 | pages=e1000504 | pmc=2683940 |doi-access=free }}</ref><ref>{{cite journal|last=Köttgen|first=A.|title=Genome-wide association analyses identify 18 new loci associated with serum urate concentrations|journal=Nature Genetics|date=February 2013|volume=45|issue=2|pages=145–154|pmid=23263486|doi=10.1038/ng.2500|pmc=3663712|display-authors=etal|url=https://www.pure.ed.ac.uk/ws/files/8739767/Genome_wide_association_analyses_identify_18_new_loci_associated_with_serum_urate_concentrations.pdf}}</ref> GLUT9, encoded by the ''SLC2A9'' gene, is known to transport both uric acid and [[fructose]].<ref name="Vitart_2008"/><ref name="Döring_2008">{{cite journal |last1=Döring |first1=A. |last2=Gieger |first2=C. |last3=Mehta |first3=D. |display-authors=etal |title=SLC2A9 influences uric acid concentrations with pronounced sex-specific effects |journal=Nature Genetics |volume=40 |issue=4 |pages=430–436 |date=April 2008 |pmid=18327256 |doi=10.1038/ng.107|s2cid=29751482 }}</ref><ref>{{Cite journal|last1=Mandal|first1=Asim K.|last2=Mount|first2=David B.|date=February 2015|title=The molecular physiology of uric acid homeostasis|url=https://pubmed.ncbi.nlm.nih.gov/25422986/|journal=[[Annual Review of Physiology]]|volume=77|pages=323–345|doi=10.1146/annurev-physiol-021113-170343|pmid=25422986}}</ref>

Myogenic [[hyperuricemia]], as a result of the [[purine nucleotide cycle]] running when ATP reservoirs in muscle cells are low, is a common pathophysiologic feature of [[Glycogen storage disease|glycogenoses]], such as [[Glycogen storage disease type III|GSD-III]], which is a [[metabolic myopathy]] impairing the ability of ATP (energy) production for muscle cells.<ref name=":0">{{cite journal | doi=10.1056/NEJM198707093170203 | title=Myogenic Hyperuricemia | year=1987 | last1=Mineo | first1=Ikuo | last2=Kono | first2=Norio | last3=Hara | first3=Naoko | last4=Shimizu | first4=Takao | last5=Yamada | first5=Yuya | last6=Kawachi | first6=Masanori | last7=Kiyokawa | first7=Hiroaki | last8=Wang | first8=Yan Lin | last9=Tarui | first9=Seiichiro | journal=New England Journal of Medicine | volume=317 | issue=2 | pages=75–80 | pmid=3473284 }}</ref> In these metabolic myopathies, myogenic hyperuricemia is exercise-induced; inosine, hypoxanthine and uric acid increase in plasma after exercise and decrease over hours with rest.<ref name=":0" /> Excess AMP (adenosine monophosphate) is converted into uric acid.<ref name=":0" />

AMP → IMP → Inosine → Hypoxanthine → Xanthine → Uric Acid<ref name=":0" />