{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T10:03:44Z","timestamp":1782900224744,"version":"3.54.5"},"reference-count":64,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,6,13]],"date-time":"2023-06-13T00:00:00Z","timestamp":1686614400000},"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":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glutaric aciduria type 1 (GA1) is an autosomal recessive disease frequently leading to dystonia. Deep brain stimulation (DBS), intrathecal baclofen (ITB), and intraventricular baclofen (IVB) are the current interventional treatment options for refractory dystonia. We performed a scoping review, individual patient data (IPD) analysis, and clinical trials review to summarize the existing literature on these interventions in this population, characterize outcomes, and suggest directions for future investigation. PubMed, Embase, and Scopus were searched following PRISMA guidelines. IPD were extracted from studies providing IPD for GA1 patients. <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/clinicaltrials.gov\">ClinicalTrials.gov<\/jats:ext-link> was reviewed. Of 139 articles, 7 studies with 10 patients were included. In study\u2010level data, 2\/4 (50.0%) DBS studies found no improvement in dystonia and 3\/3 (100%) on baclofen found decreased dystonia and enteral medication regimen. In the IPD analysis, four studies with 5 patients (2 IVB, 2 DBS, 1 ITB) were included. The average percent reduction in dystonia was 29.9%\u2009\u00b1\u200932.5% (median:18%, IQR:18%\u201329.2%). Function improved in 4 (80.0%) patients. All patients with reported changes in enteral dystonia\u2010related medication regimen (3\/3, 100%) reported reduction in medication usage. No patients (0%) had perioperative complications. Mean follow\u2010up length was 14.8\u2009\u00b1\u200912.2\u2009months. No interventional clinical trials were found. ITB, IVB, and DBS represent present neuromodulatory approaches for the treatment of GA1. ITB and IVB reduce dystonia, while DBS has a heterogeneous effect. ITB and IVB improved function and reduced enteral medication regimens. These findings must be viewed with caution considering limited data and a serious risk of bias. Further large\u2010scale studies are necessary to determine indications for ITB, IVB, and DBS and elucidate treatment algorithms.<\/jats:p>","DOI":"10.1002\/jimd.12638","type":"journal-article","created":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T05:27:34Z","timestamp":1685510854000},"page":"543-553","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Deep brain stimulation and intrathecal\/intraventricular baclofen for glutaric aciduria type 1: A scoping review, individual patient data analysis, and clinical trials review"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2079-6125","authenticated-orcid":false,"given":"Nathan A.","family":"Shlobin","sequence":"first","affiliation":[{"name":"Department of Neurological Surgery Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Hofmann","sequence":"additional","affiliation":[{"name":"Deparment of Neurosurgery Children's National Hospital  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert F.","family":"Keating","sequence":"additional","affiliation":[{"name":"Deparment of Neurosurgery Children's National Hospital  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chima O.","family":"Oluigbo","sequence":"additional","affiliation":[{"name":"Deparment of Neurosurgery Children's National Hospital  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,13]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9289-5"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0284-1"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12566"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi049290c"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.3.493"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(75)90091-5"},{"key":"e_1_2_12_8_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_12_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.3.177"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973761"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.pdr.0000219387.79887.86"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22313"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22095"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.88.6.1194"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870090105"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.05.018"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2003.12.007"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000036616.11962.3C"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200009000-00009"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000167428.12417.B2"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12033"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1227\/01.NEU.0000108643.94730.21"},{"key":"e_1_2_12_23_1","first-page":"380","article-title":"Bilateral pallidotomy for dystonia with glutaric aciduria type 1","volume":"38","author":"Hwang H\u2010S","year":"2005","journal-title":"J Korean Neurosurg Soc"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1159\/000077405"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.7326\/M18-0850"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1080\/1364557032000119616"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12874-018-0611-x"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.39489.470347.AD"},{"key":"e_1_2_12_29_1","first-page":"355","article-title":"ROBINS\u2010I: a tool for assessing risk of bias in non\u2010randomised studies of interventions","author":"Sterne JA","year":"2016","journal-title":"BMJ"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1999.tb00626.x"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.3171\/2011.8.PEDS11153"},{"key":"e_1_2_12_32_1","article-title":"Intrathecal baclofen for hypertonia secondary to glutaric aciduria type I","volume":"12","author":"Frenkel M","year":"2020","journal-title":"Cureus"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12278"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.3171\/2010.5.FOCUS1095"},{"key":"e_1_2_12_35_1","volume-title":"Intrathecal Baclofen Therapy as Treatment for Spasticity and Dystonia: Review of Cases in a Pediatric Palliative Care Unit","author":"Puertas V","year":"2022"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-017-3361-x"},{"key":"e_1_2_12_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2019.02.005"},{"key":"e_1_2_12_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-003-0956-z"},{"key":"e_1_2_12_39_1","first-page":"1199","article-title":"Evaluation of the clinical, biochemical, neurological, and genetic presentations of glutaric aciduria type 1 in patients from China","volume":"12","author":"Liang L","year":"2021","journal-title":"Front Genet"},{"key":"e_1_2_12_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25233"},{"key":"e_1_2_12_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.07.009"},{"key":"e_1_2_12_42_1","first-page":"1","article-title":"The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow\u2010up study","volume":"11","author":"M\u00e4rtner E","year":"2021","journal-title":"Sci Rep"},{"key":"e_1_2_12_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12335"},{"key":"e_1_2_12_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.01.003"},{"key":"e_1_2_12_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-00971-4"},{"key":"e_1_2_12_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28384"},{"key":"e_1_2_12_47_1","doi-asserted-by":"publisher","DOI":"10.3171\/2008.10.PEDS0847"},{"key":"e_1_2_12_48_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14063"},{"key":"e_1_2_12_49_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12117"},{"key":"e_1_2_12_50_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0b013e3181c6b257"},{"key":"e_1_2_12_51_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00701-010-0749-8"},{"key":"e_1_2_12_52_1","doi-asserted-by":"publisher","DOI":"10.1227\/NEU.0b013e31823f5cd9"},{"key":"e_1_2_12_53_1","doi-asserted-by":"publisher","DOI":"10.3171\/2012.6.PEDS11456"},{"key":"e_1_2_12_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21481"},{"key":"e_1_2_12_55_1","doi-asserted-by":"publisher","DOI":"10.1111\/ner.13357"},{"key":"e_1_2_12_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2021.108524"},{"key":"e_1_2_12_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.wneu.2020.11.168"},{"key":"e_1_2_12_58_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.5798"},{"key":"e_1_2_12_59_1","doi-asserted-by":"publisher","DOI":"10.3171\/2022.7.FOCUS22338"},{"key":"e_1_2_12_60_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-167"},{"key":"e_1_2_12_61_1","doi-asserted-by":"publisher","DOI":"10.1177\/1545968308328724"},{"key":"e_1_2_12_62_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12780"},{"key":"e_1_2_12_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.wneu.2020.11.169"},{"key":"e_1_2_12_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.wneu.2022.07.023"},{"key":"e_1_2_12_65_1","doi-asserted-by":"publisher","DOI":"10.3171\/2020.8.FOCUS20611"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12638","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T21:04:10Z","timestamp":1692219850000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12638"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,13]]},"references-count":64,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/jimd.12638"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12638","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,13]]},"assertion":[{"value":"2023-01-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}