{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T14:38:28Z","timestamp":1772635108309,"version":"3.50.1"},"publisher-location":"Berlin, Heidelberg","reference-count":48,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783662448625","type":"print"},{"value":"9783662448632","type":"electronic"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014]]},"DOI":"10.1007\/8904_2014_353","type":"book-chapter","created":{"date-parts":[[2014,9,25]],"date-time":"2014-09-25T03:45:28Z","timestamp":1411616728000},"page":"85-92","source":"Crossref","is-referenced-by-count":14,"title":["Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation"],"prefix":"10.1007","author":[{"given":"M. J.","family":"Fraidakis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Liadinioti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Stefanis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Dinopoulos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Pons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Papathanassiou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Garcia-Villoria","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Ribes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,9,26]]},"reference":[{"key":"353_CR1","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1007\/s10545-010-9223-2","volume":"34","author":"OY Al-Dirbashi","year":"2011","unstructured":"Al-Dirbashi OY, K\u00f6lker S, Ng D et al (2011) Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry. J Inherit Metab Dis 34:173\u2013180","journal-title":"J Inherit Metab Dis"},{"key":"353_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O","volume":"11","author":"SE Antonarakis","year":"1998","unstructured":"Antonarakis SE, the Nomenclature Working Group (1998) Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1\u20133","journal-title":"Hum Mutat"},{"key":"353_CR3","doi-asserted-by":"publisher","first-page":"1802","DOI":"10.1212\/01.WNL.0000036616.11962.3C","volume":"59","author":"O B\u00e4hr","year":"2002","unstructured":"B\u00e4hr O, Mader I, Zschocke J et al (2002) Adult onset glutaric aciduria type I presenting with a leukoencephalopathy. Neurology 59:1802\u20131804","journal-title":"Neurology"},{"key":"353_CR4","first-page":"1006","volume":"59","author":"BJ Biery","year":"1996","unstructured":"Biery BJ, Stein DE, Morton DH et al (1996) Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet 59:1006\u20131011","journal-title":"Am J Hum Genet"},{"key":"353_CR5","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1067\/mpd.2000.108954","volume":"137","author":"KB Bjugstad","year":"2000","unstructured":"Bjugstad KB, Goodman SI, Freed CR (2000) Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1. J Pediat 137:681\u2013686","journal-title":"J Pediat"},{"key":"353_CR6","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<207::AID-HUMU15>3.0.CO;2-F","volume":"15","author":"C Busquets","year":"2000","unstructured":"Busquets C, Coll MJ, Ribes A (2000a) Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition. Hum Mutat 15:207","journal-title":"Hum Mutat"},{"key":"353_CR7","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1203\/00006450-200009000-00009","volume":"48","author":"C Busquets","year":"2000","unstructured":"Busquets C, Merinero B, Christensen E et al (2000b) Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res 48:315\u2013322","journal-title":"Pediatr Res"},{"key":"353_CR8","unstructured":"Chen J, Wang ZX, Zhang JL et al (2011) [Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28:374\u2013378. [Article in Chinese]"},{"key":"353_CR9","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1023\/A:1005390214391","volume":"20","author":"E Christensen","year":"1997","unstructured":"Christensen E, Ribes A, Busquets C et al (1997) Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion. J Inherit Metab Dis 20:383\u2013386","journal-title":"J Inherit Metab Dis"},{"key":"353_CR10","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1023\/B:BOLI.0000045770.93429.3c","volume":"27","author":"E Christensen","year":"2004","unstructured":"Christensen E, Ribes A, Merinero B et al (2004) Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27:861\u2013868","journal-title":"J Inherit Metab Dis"},{"key":"353_CR11","unstructured":"Corral I, Mart\u00ednez Castrillo JC, Mart\u00ednez-Pardo M, et al (2001) [Glutaric aciduria type I: diagnosis in adulthood and phenotypic variability]. Neurologia 16:377\u2013380. [Article in Spanish]"},{"key":"353_CR12","doi-asserted-by":"publisher","first-page":"1076","DOI":"10.1002\/mds.10442","volume":"18","author":"E Fernandez-Alvarez","year":"2003","unstructured":"Fernandez-Alvarez E, Garcia-Cazorla A, Sans A et al (2003) Hand tremor and orofacial dyskinesia: clinical manifestation of glutaric aciduria type I in a young girl. Mov Disord 18:1076\u20131079","journal-title":"Mov Disord"},{"key":"353_CR13","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1093\/brain\/awh401","volume":"128","author":"CB Funk","year":"2005","unstructured":"Funk CB, Prasad AN, Frosk P et al (2005) Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain 128:711\u2013722","journal-title":"Brain"},{"key":"353_CR14","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1016\/j.ymgme.2005.08.005","volume":"86","author":"RC Gallagher","year":"2005","unstructured":"Gallagher RC, Cowan TM, Goodman SI et al (2005) Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed. Mol Genet Metab 86:417\u2013420","journal-title":"Mol Genet Metab"},{"key":"353_CR15","doi-asserted-by":"publisher","first-page":"2392","DOI":"10.1002\/mds.22313","volume":"23","author":"C Gitiaux","year":"2008","unstructured":"Gitiaux C, Roze E, Kinugawa K et al (2008) Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients. Mov Disord 23:2392\u20132397","journal-title":"Mov Disord"},{"key":"353_CR16","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1016\/0006-2944(75)90091-5","volume":"12","author":"SI Goodman","year":"1975","unstructured":"Goodman SI, Markey SP, Moe PG et al (1975) Glutaric aciduria; a \u2018new\u2019 disorder of amino acid metabolism. Biochem Med 12:12\u201321","journal-title":"Biochem Med"},{"key":"353_CR17","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1016\/j.braindev.2005.06.010","volume":"28","author":"N Gordon","year":"2006","unstructured":"Gordon N (2006) Glutaric aciduria types I and II. Brain Dev 28:136\u2013140","journal-title":"Brain Dev"},{"key":"353_CR18","doi-asserted-by":"publisher","first-page":"1764","DOI":"10.1093\/brain\/awp112","volume":"132","author":"I Harting","year":"2009","unstructured":"Harting I, Neumaier-Probst E, Seitz A et al (2009) Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain 132:1764\u20131782","journal-title":"Brain"},{"key":"353_CR19","first-page":"123","volume":"145","author":"JC Haworth","year":"1991","unstructured":"Haworth JC, Dilling LA, Seargeant LE (1991) Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario. Can Med Ass J 145:123\u2013129","journal-title":"Can Med Ass J"},{"key":"353_CR20","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1002\/ana.22095","volume":"68","author":"J Heringer","year":"2010","unstructured":"Heringer J, Boy SP, Ensenauer R et al (2010) Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 68:743\u2013752","journal-title":"Ann Neurol"},{"key":"353_CR21","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1023\/A:1021207419125","volume":"25","author":"I Knerr","year":"2002","unstructured":"Knerr I, Zschocke J, Trautmann U et al (2002) Glutaric aciduria type III: a distinctive non-disease? J Inherit Metab Dis 25:483\u2013490","journal-title":"J Inherit Metab Dis"},{"key":"353_CR22","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1006\/geno.1995.1182","volume":"28","author":"DM Koeller","year":"1995","unstructured":"Koeller DM, DiGiulio KA, Angeloni SV et al (1995) Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene. Genomics 28:508\u2013512","journal-title":"Genomics"},{"key":"353_CR23","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1023\/B:BOLI.0000045763.52907.5e","volume":"27","author":"DM Koeller","year":"2004","unstructured":"Koeller DM, Sauer S, Wajner M et al (2004) Animal models for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27:813\u2013818","journal-title":"J Inherit Metab Dis"},{"key":"353_CR24","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1203\/01.pdr.0000219387.79887.86","volume":"59","author":"S K\u00f6lker","year":"2006","unstructured":"K\u00f6lker S, Garbade SF, Greenberg CR et al (2006a) Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 59:840\u2013847","journal-title":"Pediatr Res"},{"key":"353_CR25","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1007\/s10545-006-0415-8","volume":"29","author":"S K\u00f6lker","year":"2006","unstructured":"K\u00f6lker S, Sauer SW, Surtees RA et al (2006b) The aetiology of neurological complications of organic acidaemias\u2013a role for the blood\u2013brain barrier. J Inherit Metab Dis 29:701\u2013704","journal-title":"J Inherit Metab Dis"},{"key":"353_CR26","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1007\/s10545-008-0823-z","volume":"31","author":"S K\u00f6lker","year":"2008","unstructured":"K\u00f6lker S, Sauer SW, Hoffmann GF et al (2008) Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism. J Inherit Metab Dis 31:194\u2013204","journal-title":"J Inherit Metab Dis"},{"key":"353_CR27","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1007\/s10545-011-9289-5","volume":"34","author":"S K\u00f6lker","year":"2011","unstructured":"K\u00f6lker S, Christensen E, Leonard JV et al (2011) Diagnosis and management of glutaric aciduria type I-revised recommendations. J Inherit Metab Dis 34:677\u2013694","journal-title":"J Inherit Metab Dis"},{"key":"353_CR28","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1016\/j.ymgme.2012.03.021","volume":"107","author":"S K\u00f6lker","year":"2012","unstructured":"K\u00f6lker S, Boy SP, Heringer J et al (2012) Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I \u2013 a decade of experience. Mol Genet Metab 107:72\u201380","journal-title":"Mol Genet Metab"},{"key":"353_CR29","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1007\/s10545-013-9600-8","volume":"36","author":"S K\u00f6lker","year":"2013","unstructured":"K\u00f6lker S, Burgard P, Sauer SW et al (2013) Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation. J Inherit Metab Dis 36:635\u2013644","journal-title":"J Inherit Metab Dis"},{"key":"353_CR30","doi-asserted-by":"publisher","first-page":"2142","DOI":"10.1212\/01.WNL.0000167428.12417.B2","volume":"64","author":"S K\u00fclkens","year":"2005","unstructured":"K\u00fclkens S, Harting I, Sauer S et al (2005) Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology 64:2142\u20132144","journal-title":"Neurology"},{"key":"353_CR31","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1002\/mds.870090105","volume":"9","author":"M Kyllerman","year":"1994","unstructured":"Kyllerman M, Skjeldal OH, Lundberg M et al (1994) Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations. Mov Disord 9:22\u201330","journal-title":"Mov Disord"},{"key":"353_CR32","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1055\/s-2007-979763","volume":"26","author":"B Merinero","year":"1995","unstructured":"Merinero B, Perez-Cerda C, Font LM et al (1995) Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. Neuropediatrics 26:238\u2013242","journal-title":"Neuropediatrics"},{"key":"353_CR33","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1002\/ajmg.1320410122","volume":"41","author":"DH Morton","year":"1991","unstructured":"Morton DH, Bennett MJ, Seargeant LE et al (1991) Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet 41:89\u201395","journal-title":"Am J Med Genet"},{"key":"353_CR34","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1023\/B:BOLI.0000005604.90621.e2","volume":"26","author":"C M\u00fchlhausen","year":"2003","unstructured":"M\u00fchlhausen C, Christensen E, Schwartz M et al (2003) Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. J Inherit Metab Dis 26:713\u2013714","journal-title":"J Inherit Metab Dis"},{"key":"353_CR35","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1016\/j.ajhg.2011.10.005","volume":"89","author":"A Navarro-Sastre","year":"2011","unstructured":"Navarro-Sastre A, Tort F, Stehling O et al (2011) A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet 89:656\u2013667","journal-title":"Am J Hum Genet"},{"key":"353_CR36","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1006\/mgme.1998.2794","volume":"66","author":"WL Nyhan","year":"1999","unstructured":"Nyhan WL, Zschocke J, Hoffmann GF et al (1999) Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria. Mol Genet Metab 66:199\u2013204","journal-title":"Mol Genet Metab"},{"key":"353_CR37","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1007\/s00234-005-1350-3","volume":"47","author":"KK Oguz","year":"2005","unstructured":"Oguz KK, Ozturk A, Cila A (2005) Diffusion-weighted MR imaging and MR spectroscopy in glutaric aciduria type I. Neuroradiology 47:229\u2013234","journal-title":"Neuroradiology"},{"key":"353_CR38","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1111\/j.1469-8749.1998.tb12362.x","volume":"40","author":"M Pineda","year":"1998","unstructured":"Pineda M, Ribes A, Busquets C et al (1998) Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity. Dev Med Child Neurol 40:840\u2013842","journal-title":"Dev Med Child Neurol"},{"key":"353_CR39","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1136\/jnnp.60.3.352","volume":"60","author":"MC Prevett","year":"1996","unstructured":"Prevett MC, Howard RS, Dalton RN et al (1996) Glutaric aciduria type 1 in adulthood. J Neurol Neurosurg Psychiatry 60:352\u2013353","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"353_CR40","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1111\/j.1471-4159.2006.03813.x","volume":"97","author":"SW Sauer","year":"2006","unstructured":"Sauer SW, Okun JG, Fricker G et al (2006) Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood\u2013brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. J Neurochem 97:899\u2013910","journal-title":"J Neurochem"},{"key":"353_CR41","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1093\/brain\/awq269","volume":"134","author":"SW Sauer","year":"2011","unstructured":"Sauer SW, Opp S, Hoffmann GF et al (2011) Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I. Brain 134:157\u2013170","journal-title":"Brain"},{"key":"353_CR42","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1007\/s004390050720","volume":"102","author":"M Schwartz","year":"1998","unstructured":"Schwartz M, Christensen E, Superti-Furga A et al (1998) The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. Hum Genet 102:452\u2013458","journal-title":"Hum Genet"},{"key":"353_CR43","first-page":"729","volume":"102","author":"SG Shu","year":"2003","unstructured":"Shu SG, Tsai CR, Chen LH et al (2003) Type I glutaric aciduria: phenotypes and genotypes in 5 Taiwanese children. J Formos Med Assoc 102:729\u2013732","journal-title":"J Formos Med Assoc"},{"key":"353_CR44","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1080\/02841850701280874","volume":"48","author":"G Sonmez","year":"2007","unstructured":"Sonmez G, Mutlu H, Ozturk E et al (2007) Magnetic resonance imaging findings of adult-onset glutaric aciduria type I. Acta Radiol 48:557\u2013559","journal-title":"Acta Radiol"},{"key":"353_CR45","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1002\/ajmg.c.20007","volume":"121","author":"KA Strauss","year":"2003","unstructured":"Strauss KA, Puffenberger EG, Robinson DL et al (2003) Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet 121:38\u201352","journal-title":"Am J Med Genet"},{"key":"353_CR46","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1002\/1098-1004(200011)16:5<446::AID-HUMU14>3.0.CO;2-Y","volume":"16","author":"NL Tang","year":"2000","unstructured":"Tang NL, Hui J, Law LK et al (2000) Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. Hum Mutat 16:446","journal-title":"Hum Mutat"},{"key":"353_CR47","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1007\/s00247-003-0956-z","volume":"33","author":"EL Twomey","year":"2003","unstructured":"Twomey EL, Naughten ER, Donoghue VB et al (2003) Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol 33:823\u2013830","journal-title":"Pediatr Radiol"},{"key":"353_CR48","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1055\/s-2000-12943","volume":"31","author":"DI Zafeiriou","year":"2000","unstructured":"Zafeiriou DI, Zschocke J, Augoustidou-Savvopoulou P et al (2000) Atypical and variable clinical presentation of glutaric aciduria type I. Neuropediatrics 31:303\u2013306","journal-title":"Neuropediatrics"}],"container-title":["JIMD Reports","JIMD Reports, Volume 18"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2014_353","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,27]],"date-time":"2019-05-27T20:13:24Z","timestamp":1558988004000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2014_353"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"ISBN":["9783662448625","9783662448632"],"references-count":48,"URL":"https:\/\/doi.org\/10.1007\/8904_2014_353","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}