Editing Creatine (section)

===Genetic deficiencies===
Genetic deficiencies in the creatine biosynthetic pathway lead to various [[cerebral creatine deficiency|severe neurological defects]].<ref>{{Cite web |url=https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602360 |title=L-Arginine:Glycine Amidinotransferase |access-date=16 August 2010 |archive-date=24 August 2013 |archive-url=https://web.archive.org/web/20130824195046/http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602360 |url-status=live }}</ref> Clinically, there are three distinct disorders of creatine metabolism, termed [[Cerebral creatine deficiency|cerebral creatine deficiencies]]. Deficiencies in the two synthesis enzymes can cause [[Arginine:glycine amidinotransferase|L-arginine:glycine amidinotransferase deficiency]] caused by variants in ''[[GATM (gene)|GATM]]'' and [[guanidinoacetate methyltransferase deficiency]], caused by variants in ''[[GAMT]]''. Both biosynthetic defects are inherited in an autosomal recessive manner. A third defect, [[creatine transporter defect]], is caused by mutations in ''[[SLC6A8]]'' and is inherited in a X-linked manner. This condition is related to the transport of creatine into the brain.<ref name="creatinedefects">{{cite journal | vauthors = Braissant O, Henry H, Béard E, Uldry J | title = Creatine deficiency syndromes and the importance of creatine synthesis in the brain | journal = Amino Acids | volume = 40 | issue = 5 | pages = 1315–24 | date = May 2011 | pmid = 21390529 | doi = 10.1007/s00726-011-0852-z | s2cid = 13755292 | url = https://serval.unil.ch/resource/serval:BIB_CE3937F9A69E.P001/REF.pdf | access-date = 8 July 2019 | archive-date = 10 March 2021 | archive-url = https://web.archive.org/web/20210310001947/https://serval.unil.ch/resource/serval:BIB_CE3937F9A69E.P001/REF.pdf | url-status = live }}</ref>