{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:32:21Z","timestamp":1786977141307,"version":"build-2736575974"},"reference-count":7,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T00:00:00Z","timestamp":1590105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Neonatal encephalopathy manifests with altered sensorium, tone abnormalities, and often with abnormal movements and seizures. The causes are heterogeneous and many. We report a late preterm neonate who presented with depressed sensorium, cranial nerve abnormalities, mixed hypertonia and hypotonia, and respiratory failure. Neuroimaging and electrophysiological studies were normal. She had neutropenia and elevated lactates in blood. Her dried blood spot analysis by tandem MS\/MS showed normal acylcarnitine and amino acid profile. Plasma and cerebro spinal fluid (CSF) amino acid quantification were inconclusive, CSF folate was normal. Urine organic acid analysis showed elevated lactate. Semi\u2010quantitative analysis of urine showed borderline elevation of 3\u2010methylglutaconic acid. Diagnosis of 3\u2010methylglutaconic aciduria (3MGA) type VIII was suggested by whole\u2010exome sequencing, which revealed a homozygous, likely pathogenic, missense mutation in Exon 2 of\n                    <jats:italic>HTRA2<\/jats:italic>\n                    gene (chr2.74757898A&gt;C). Her parents were found to be carriers of the same mutation. This underscores the importance of genetic studies in the evaluation of neonatal neuro\u2010metabolic disorders. We report the first case of 3MGA type VIII from our region with a review of already reported 11 cases.\n                  <\/jats:p>","DOI":"10.1002\/bdr2.1717","type":"journal-article","created":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T23:28:17Z","timestamp":1590190097000},"page":"1093-1097","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["3\u2010Methylglutaconic aciduria type\n                    <scp>VIII<\/scp>\n                    in an Indian neonate"],"prefix":"10.1002","volume":"112","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3715-7875","authenticated-orcid":false,"given":"Malla Sadashivappa","family":"Sreedhara","sequence":"first","affiliation":[{"name":"Department of Neonatology Sri Ramachandra Medical College and Research Institute  Chennai Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8132-9574","authenticated-orcid":false,"given":"Umamaheswari","family":"Balakrishnan","sequence":"additional","affiliation":[{"name":"Department of Neonatology Sri Ramachandra Medical College and Research Institute  Chennai Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prakash","family":"Amboiram","sequence":"additional","affiliation":[{"name":"Department of Neonatology Sri Ramachandra Medical College and Research Institute  Chennai Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok","family":"Chandrasekeran","sequence":"additional","affiliation":[{"name":"Department of Neonatology Sri Ramachandra Medical College and Research Institute  Chennai Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thangaraj","family":"Abiramalatha","sequence":"additional","affiliation":[{"name":"Department of Neonatology Sri Ramachandra Medical College and Research Institute  Chennai Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shafi Jan Shaik","family":"Mohammad","sequence":"additional","affiliation":[{"name":"Department of Neonatology Sri Ramachandra Medical College and Research Institute  Chennai Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Usha Devi","family":"Rajendran","sequence":"additional","affiliation":[{"name":"Department of Neonatology Sri Ramachandra Medical College and Research Institute  Chennai Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thinesh Kumar","family":"Jeyaraman","sequence":"additional","affiliation":[{"name":"Department of Neonatology Sri Ramachandra Medical College and Research Institute  Chennai Tamil Nadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70126-5"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1667345"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103922"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9977-2"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3984"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2004.tb02974.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.cdd.4402291"}],"container-title":["Birth Defects Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdr2.1717","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.1717","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/bdr2.1717","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.1717","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T23:10:51Z","timestamp":1693869051000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdr2.1717"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,22]]},"references-count":7,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["10.1002\/bdr2.1717"],"URL":"https:\/\/doi.org\/10.1002\/bdr2.1717","archive":["Portico"],"relation":{},"ISSN":["2472-1727","2472-1727"],"issn-type":[{"value":"2472-1727","type":"print"},{"value":"2472-1727","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,22]]},"assertion":[{"value":"2019-09-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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