{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T03:38:07Z","timestamp":1771472287645,"version":"3.50.1"},"reference-count":0,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,12,14]],"date-time":"2006-12-14T00:00:00Z","timestamp":1166054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Guanidinoacetate methyltransferase (GAMT) deficiency is a rare disorder of creatine synthesis. We report a patient who presented at 10 months of age with hypotonia and global developmental delay. Subsequently, she developed seizures and choreoathetosis. Magnetic resonance imaging showed high signal bilaterally in the globus pallidus on T2\u2010weighted images. Mitochondrial respiratory chain studies revealed low complex I activity (in muscle 0.052 nmol NADH oxidized per min per unit citrate synthase, controls 0.166 \u00b1 0.047; in fibroblasts 0.080 nmol NADH oxidized per min per unit citrate synthase, controls 0.197 \u00b1 0.034). The true diagnosis was suspected at 21 months of age because of persistent low plasma and urine creatinine concentrations. GAMT activity was undetectable in fibroblasts and compound heterozygous mutations were found in the <jats:italic> GAMT<\/jats:italic> gene (c.327G&gt;A and c.522G&gt;A). The patient was treated with creatine, dietary arginine restriction and ornithine supplements. Her movement disorder and seizures resolved but she still has severe cognitive impairment and no expressive language. The occurrence of secondary respiratory chain abnormalities in GAMT deficiency may lead to misdiagnosis, particularly as the clinical and radiological features resemble those seen in mitochondrial encephalopathies. It is important to establish the correct diagnosis because specific treatment is available.<\/jats:p>","DOI":"10.1007\/s10545-006-0478-2","type":"journal-article","created":{"date-parts":[[2006,12,14]],"date-time":"2006-12-14T15:32:27Z","timestamp":1166110347000},"page":"100-100","source":"Crossref","is-referenced-by-count":29,"title":["Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy"],"prefix":"10.1002","volume":"30","author":[{"given":"A. A. M.","family":"Morris","sequence":"first","affiliation":[{"name":"Willink Unit Royal Manchester Children's Hospital Manchester"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. E.","family":"Appleton","sequence":"additional","affiliation":[{"name":"Department of Neurology Royal Liverpool Children's Hospital Liverpool UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Power","sequence":"additional","affiliation":[{"name":"Department of Neurology Royal Liverpool Children's Hospital Liverpool UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. M.","family":"Isherwood","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Royal Liverpool Children's Hospital Liverpool UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. J.","family":"Abernethy","sequence":"additional","affiliation":[{"name":"Department of Radiology Royal Liverpool Children's Hospital Liverpool UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. W.","family":"Taylor","sequence":"additional","affiliation":[{"name":"Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry University of Newcastle upon Tyne Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. M.","family":"Turnbull","sequence":"additional","affiliation":[{"name":"Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry University of Newcastle upon Tyne Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. M.","family":"Verhoeven","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Metabolic Unit VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. S.","family":"Salomons","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Metabolic Unit VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Jakobs","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Metabolic Unit VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,12,14]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0478-2","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0478-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:07:42Z","timestamp":1694750862000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0478-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,14]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["10.1007\/s10545-006-0478-2"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0478-2","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12,14]]}}}