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It results in the accumulation of 3\u2010hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age. This disorder can be identified by increased glutaryl (C5DC) carnitine on newborn screening. Urine organic acid analysis indicates the presence of excess 3\u2010OH\u2010glutaric acid, and urine acylcarnitine profile shows glutaryl carnitine as the major peak. Therapy consists in carnitine supplementation to remove glutaric acid, a diet restricted in amino acids capable of producing glutaric acid, and prompt treatment of intercurrent illnesses. Early diagnosis and therapy reduce the risk of acute dystonia in patients with GA\u20101. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30088","type":"journal-article","created":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T18:46:21Z","timestamp":1144349181000},"page":"86-94","source":"Crossref","is-referenced-by-count":107,"title":["Glutaric acidemia type 1"],"prefix":"10.1002","volume":"142C","author":[{"given":"Gary L.","family":"Hedlund","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Longo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzia","family":"Pasquali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,4,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200107000-00013"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000036616.11962.3C"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000045772.09776.e0"},{"key":"e_1_2_6_5_1","first-page":"675","article-title":"CT and MR of the brain in glutaric acidemia type I: A review of 59 published cases and a report of 5 new patients","volume":"16","author":"Brismar J","year":"1995","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000045770.93429.3c"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.rli.0000080405.62988.f6"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050558"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.82.13.4517"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh401"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.08.005"},{"key":"e_1_2_6_12_1","unstructured":"2001 McGraw Hill New York SI Goodman FE Frerman CR Scriver AL Beaudet WS Sly D Valle Organic acidemias due to defects in lysine oxidation: 2\u2010ketoadipic acidemia and glutaric acidemia 2195 2204"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(75)90091-5"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:3<141::AID-HUMU1>3.0.CO;2-K"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.3.493"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3270"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81843-8"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973761"},{"key":"e_1_2_6_19_1","first-page":"289","article-title":"Ocular findings in glutaric aciduria type 1","volume":"37","author":"Kafil\u2010Hussain NA","year":"2000","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1021207419125"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.4.347"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000045774.51260.ea"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000045762.37248.28"},{"key":"e_1_2_6_24_1","first-page":"279","article-title":"Glutaric aciduria. 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