{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T11:10:49Z","timestamp":1694862649613},"reference-count":9,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2008,10,16]],"date-time":"2008-10-16T00:00:00Z","timestamp":1224115200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Maple syrup urine disease (MSUD; OMIM 248600) results from an inherited deficiency of the branched\u2010chain ketoacid dehydrogenase (BCKD) complex. Approximately 20% of patients with BCKD deficiency are non\u2010classic variants of MSUD with differing clinical severity. Outcomes for this cohort are generally favourable; episodes of metabolic decompensation do not appear to correlate with adverse events if acute management is promptly provided. A case of predominantly axonal sensory\u2010motor neuropathy following metabolic decompensation which persisted for a number of months is presented in an adolescent girl with variant (intermediate type) MSUD. EMG and nerve conduction studies suggested a pre\u2010existent asymptomatic chronic neuropathy, exacerbated by the acute decompensation. Peak leucine concentration at decompensation was 1083 \u03bcmol\/L. The patient had laboratory signs of secondary mitochondrial respiratory chain dysfunction at presentation. She had been on a moderate dose of thiamine prior to decompensation; thiamine and pyridoxine blood concentrations were normal. This, to our knowledge, is the first report of a neuropathy presenting in a patient with a decompensation of variant MSUD. We propose that this presentation resembles the intermittent neuropathy observed in pyruvate dehydrogenase deficiency and may reflect secondary inhibition of pyruvate dehydrogenase activity by MSUD metabolites.<\/jats:p>","DOI":"10.1007\/s10545-008-0751-y","type":"journal-article","created":{"date-parts":[[2008,10,14]],"date-time":"2008-10-14T06:28:26Z","timestamp":1223965706000},"page":"209-211","source":"Crossref","is-referenced-by-count":1,"title":["Sensory\u2010motor polyneuropathy occurring in variant maple syrup urine disease"],"prefix":"10.1002","volume":"31","author":[{"given":"S.","family":"Harty","sequence":"first","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders Children's University Hospital Temple St. Dublin 1 Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. D.","family":"King","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's University Hospital Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"McCoy","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's University Hospital Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Costigan","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's University Hospital Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. P.","family":"Treacy","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders Children's University Hospital Temple St. Dublin 1 Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,10,16]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(20)81813-4"},{"key":"e_1_2_3_3_1","first-page":"1971","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Chuang DT","year":"2001"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-006-0104-5"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-4598(200102)24:2<284::AID-MUS140>3.0.CO;2-U"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(93)90106-M"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11064-007-9423-9"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2003.09.010"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0276-1"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198901000-00003"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0751-y","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-008-0751-y","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0751-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:21:59Z","timestamp":1694751719000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-0751-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10,16]]},"references-count":9,"journal-issue":{"issue":"S2","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1007\/s10545-008-0751-y"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-0751-y","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,10,16]]}}}