{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T20:34:20Z","timestamp":1786739660679,"version":"build-2736575974"},"reference-count":21,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction:<\/jats:title>\n                    <jats:p>Glutaric aciduria type I is an autosomal recessive disorder of lysine metabolism due to the defect of the enzyme glutaryl-CoA dehydrogenase. The regression of milestones following an intercurrent infection with disabling dystonia is the common presentation. We report the clinical features, diagnosis, and management of 14 south Indian children with glutaric aciduria type I.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Males predominated the study (57.1%). The mean age of onset of the symptoms was 8.57 \u00b1 3.57 months. The mean age at the time of diagnosis was 35.21 \u00b1 48.31 months. The history of consanguinity was noted in 57.1%. Development was normal prior to the onset of acute crises in nearly three fourths. Acute crises triggered by infection followed by the regression of milestones was the major presenting feature in 10 children (71.4%). Macrocephaly was another prominent feature in an equal number. Bat's wing appearance (fronto temporal atrophy) was present in all children. Nearly 80% had moderate to severe disability in the form of dystonic movement disorder and spastic quadriparesis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Glutaric aciduria type Ihas to be identified and managed early to have a better outcome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aian.aian_42_20","type":"journal-article","created":{"date-parts":[[2020,12,28]],"date-time":"2020-12-28T07:54:01Z","timestamp":1609142041000},"page":"22-26","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":6,"title":["Pediatric Glutaric Aciduria Type 1"],"prefix":"10.4103","volume":"24","author":[{"given":"Leema P.","family":"Cornelius","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivekasaravanan","family":"Raju","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asir","family":"Julin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-8-20240828","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1542\/peds.88.6.1194","article-title":"Glutaryl-coenzyme A dehydrogenase deficiency: A distinct encephalopathy","volume":"88","author":"Hoffman","year":"1991","journal-title":"Pediatrics"},{"key":"R2-8-20240828","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":"Lindner","year":"2004","journal-title":"J Inherit Metab Dis"},{"key":"R3-8-20240828","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1023\/A:1005543904484","article-title":"Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy","volume":"22","author":"Hoffmann","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"R4-8-20240828","doi-asserted-by":"crossref","first-page":"9674","DOI":"10.1021\/bi049290c","article-title":"Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: Structural bases of dehydrogenation and decarboxylation reactions","volume":"43","author":"Fu","year":"2004","journal-title":"Biochemistry"},{"key":"R5-8-20240828","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1373\/clinchem.2003.022178","article-title":"Use of tandem mass spectrometry for multi analyte screening of dried blood specimens from newborns","volume":"40","author":"Chace","year":"2003","journal-title":"Clin Chem"},{"key":"R6-8-20240828","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1002\/ajmg.c.20007","article-title":"Type I glutaric aciduria, part 1: Natural history of 77 patients","volume":"121C","author":"Strauss","year":"2003","journal-title":"Am J Med Genet"},{"key":"R7-8-20240828","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/8904_2014_377","article-title":"Glutaric Acidemia type 1-Clinico-molecular profile and novel mutations in GCDH gene in Indian patients","volume":"21","author":"Gupta","year":"2015","journal-title":"JIMD Rep"},{"key":"R8-8-20240828","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1203\/01.pdr.0000219387.79887.86","article-title":"Natural history, outcome and therapeutic efficacy in children and adultswith glutaryl-CoA dehydrogenase deficiency","volume":"59","author":"K\u00f6lker","year":"2006","journal-title":"Pediatr Res"},{"key":"R9-8-20240828","doi-asserted-by":"crossref","first-page":"85","DOI":"10.4103\/jpn.JPN_165_16","article-title":"Glutaric aciduria type I: A rare metabolic disorder mimicking as choreoathetoid cerebral palsy","volume":"12","author":"Sarangi","year":"2017","journal-title":"J Pediatr Neurosci"},{"key":"R10-8-20240828","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":"Zayed","year":"2019","journal-title":"Metab Brain Dis"},{"key":"R11-8-20240828","first-page":"255","article-title":"Macrocephaly the first manifestation of glutaric aciduria type I: The importance of early diagnosis","volume":"20","author":"Granero","year":"2005","journal-title":"Neurologia"},{"key":"R12-8-20240828","first-page":"939","article-title":"In utero macrocephaly as clinical manifestation of glutaric aciduria type I. 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