{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T21:08:06Z","timestamp":1762376886921},"reference-count":27,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Glutaric acidemia type 1 (GA1) is an inherited neurometabolic disease with significant morbidity. However, neuro-radiological correlation is not completely understood.<\/jats:p><jats:p>\n          Objective\u2003The study aimed to characterize the neuroimaging findings and their association with neurological phenotype in GA1 children.<\/jats:p><jats:p>\n          Methods\u2003Twenty-six Egyptian children (median age\u2009=\u200912 months) diagnosed with GA1 underwent clinical evaluation and brain magnetic resonance imaging (MRI). We objectively assessed the severity of neurological phenotype at the time of MRI using movement disorder (MD) and morbidity scores. Evaluation of brain MRI abnormalities followed a systematic and region-specific scoring approach. Brain MRI findings and scores were correlated with MD and morbidity scores, disease onset, and presence of seizures.<\/jats:p><jats:p>\n          Results\u2003Fifteen (57.7%) cases had insidious onset, eight (30.8%) manifested acute onset, whereas three (11.5%) were asymptomatic. Ten (38.5%) cases had seizures, five of which had no acute encephalopathic crisis. Putamen and caudate abnormalities (found in all acute onset, 93.3 and 73.3% of insidious onset, and one of three asymptomatic cases) were significantly related to MD (p\u2009=\u20090.007 and 0.013) and morbidity (p\u2009=\u20090.005 and 0.003) scores. Globus pallidus abnormalities (50% of acute onset, 46.7% of insidious onset, and one of three of asymptomatic cases) were significantly associated with morbidity score (p\u2009=\u20090.023). Other MRI brain abnormalities as well as gray and white matter score showed no significant association with neurological phenotype. Younger age at onset, acute onset, and seizures were significantly associated with worse neurological manifestations.<\/jats:p><jats:p>\n          Conclusion\u2003Patients with GA1 manifest characteristic and region-specific brain MRI abnormalities, but only striatal affection appears to correlate with neurological phenotype.<\/jats:p>","DOI":"10.1055\/s-0040-1722681","type":"journal-article","created":{"date-parts":[[2021,2,23]],"date-time":"2021-02-23T23:58:02Z","timestamp":1614124682000},"page":"431-440","source":"Crossref","is-referenced-by-count":6,"title":["Clinico-Radiological Correlation in 26 Egyptian Children with Glutaric Acidemia Type 1"],"prefix":"10.1055","volume":"52","author":[{"given":"Abdelrahim A.","family":"Sadek","sequence":"additional","affiliation":[{"name":"Neuropsychiatry Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed A.","family":"Aladawy","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Pediatrics, Faculty of Medicine, Al-Azhar University, Assiut, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rofaida M.","family":"Magdy","sequence":"additional","affiliation":[{"name":"Metabolic and Genetic Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarek M. M.","family":"Mansour","sequence":"additional","affiliation":[{"name":"Department of Radio-diagnosis, Faculty of Medicine, Al-Azhar University, Assiut, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amr A.","family":"Othman","sequence":"additional","affiliation":[{"name":"Neuropsychiatry Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bahaa","family":"Hawary","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Pediatrics, Faculty of Medicine, Aswan University, Aswan Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed F.","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Neurology Unit, Department of Pediatrics, Faculty of Medicine, Al-Azhar University, Assiut, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed H.","family":"Hassan","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry, Faculty of Medicine, South Valley University, Qena, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elsayed","family":"Abdelkreem","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,2,23]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s10545-016-9999-9","article-title":"Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision","volume":"40","author":"N Boy","year":"2017","journal-title":"J Inherit Metab Dis"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1203\/01.pdr.0000219387.79887.86","article-title":"Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency","volume":"59","author":"S K\u00f6lker","year":"2006","journal-title":"Pediatr Res"},{"key":"ref3","first-page":"S1","article-title":"Effect of newborn screening and adherence to recommended treatment on clinical outcome in glutaric aciduria type 1: a meta-analysis","volume":"50","author":"N Boy","year":"2019","journal-title":"Neuropediatrics"},{"issue":"06","key":"ref4","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1023\/B:BOLI.0000045769.96657.af","article-title":"Neonatal screening for glutaryl-CoA dehydrogenase deficiency","volume":"27","author":"M Lindner","year":"2004","journal-title":"J Inherit Metab Dis"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/jimd.12033","article-title":"Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1","volume":"42","author":"N Boy","year":"2019","journal-title":"J Inherit Metab Dis"},{"issue":"12","key":"ref6","doi-asserted-by":"crossref","first-page":"2142","DOI":"10.1212\/01.WNL.0000167428.12417.B2","article-title":"Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency","volume":"64","author":"S K\u00fclkens","year":"2005","journal-title":"Neurology"},{"issue":"08","key":"ref7","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1023\/A:1005683222187","article-title":"Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I","volume":"22","author":"I Baric","year":"1999","journal-title":"J Inherit Metab Dis"},{"issue":"05","key":"ref8","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1002\/ana.25233","article-title":"Newborn screening: a disease-changing intervention for glutaric aciduria type 1","volume":"83","author":"N Boy","year":"2018","journal-title":"Ann Neurol"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1764","DOI":"10.1093\/brain\/awp112","article-title":"Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I","volume":"132","author":"I Harting","year":"2009","journal-title":"Brain"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1093\/brain\/awq269","article-title":"Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I","volume":"134","author":"S W Sauer","year":"2011","journal-title":"Brain"},{"issue":"01","key":"ref11","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41436-020-00971-4","article-title":"Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis","volume":"23","author":"N Boy","year":"2021","journal-title":"Genet Med"},{"issue":"12","key":"ref12","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1007\/s00247-003-0956-z","article-title":"Neuroimaging findings in glutaric aciduria type 1","volume":"33","author":"E L Twomey","year":"2003","journal-title":"Pediatr Radiol"},{"issue":"11","key":"ref13","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.1007\/s00247-015-3395-8","article-title":"Glutaric aciduria type 1: neuroimaging features with clinical correlation","volume":"45","author":"S A Mohammad","year":"2015","journal-title":"Pediatr Radiol"},{"issue":"05","key":"ref14","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1007\/s10545-014-9676-9","article-title":"Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients","volume":"37","author":"S F Garbade","year":"2014","journal-title":"J Inherit Metab Dis"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1093\/brain\/awm058","article-title":"Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency","volume":"130","author":"K A Strauss","year":"2007","journal-title":"Brain"},{"issue":"03","key":"ref16","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1177\/0969141315618229","article-title":"Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study","volume":"23","author":"F A Hassan","year":"2016","journal-title":"J Med Screen"},{"issue":"04","key":"ref17","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1007\/s11011-019-00422-3","article-title":"Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1","volume":"34","author":"H Zayed","year":"2019","journal-title":"Metab Brain Dis"},{"issue":"01","key":"ref18","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1148\/radiology.213.1.r99se01121","article-title":"Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach","volume":"213","author":"M S van der Knaap","year":"1999","journal-title":"Radiology"},{"issue":"08","key":"ref19","first-page":"1677","article-title":"MR of the cerebral operculum: topographic identification and measurement of interopercular distances in healthy infants and children","volume":"16","author":"C Y Chen","year":"1995","journal-title":"AJNR Am J Neuroradiol"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/3-540-27660-2_4","volume-title":"Magnetic Resonance of Myelination and Myelin Disorders","author":"M S van der Knaap","year":"2005","edition":"3rd edition"},{"issue":"04","key":"ref21","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":"J Brismar","year":"1995","journal-title":"AJNR Am J Neuroradiol"},{"issue":"02","key":"ref22","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/0022-510X(92)90289-W","article-title":"Striatal degeneration and spongy myelinopathy in glutaric acidemia","volume":"107","author":"D Soffer","year":"1992","journal-title":"J Neurol Sci"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1093\/brain\/awp297","article-title":"Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency","volume":"133","author":"K A Strauss","year":"2010","journal-title":"Brain"},{"issue":"05","key":"ref24","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1007\/s10545-015-9826-8","article-title":"(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites","volume":"38","author":"I Harting","year":"2015","journal-title":"J Inherit Metab Dis"},{"issue":"06","key":"ref25","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1007\/s10545-015-9839-3","article-title":"The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation","volume":"38","author":"S K\u00f6lker","year":"2015","journal-title":"J Inherit Metab Dis"},{"issue":"01","key":"ref26","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/S0022-3476(05)81843-8","article-title":"Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian Indian kindreds","volume":"118","author":"J C Haworth","year":"1991","journal-title":"J Pediatr"},{"issue":"03","key":"ref27","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1111\/j.1469-8749.2008.03240.x","article-title":"Glutaric aciduria type 1 presenting with epilepsy","volume":"51","author":"V M McClelland","year":"2009","journal-title":"Dev Med Child Neurol"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1722681.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,5]],"date-time":"2021-11-05T23:52:12Z","timestamp":1636156332000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1722681"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,23]]},"references-count":27,"journal-issue":{"issue":"06","published-online":{"date-parts":[[2021,11,5]]},"published-print":{"date-parts":[[2021,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1722681","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,23]]}}}