{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T16:26:24Z","timestamp":1791563184954,"version":"4.3.4"},"reference-count":0,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,4,1]],"date-time":"2005-04-01T00:00:00Z","timestamp":1112313600000},"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":[[2005,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>A patient with a severe neonatal variant of 3\u2010methylcrotonyl\u2010CoA carboxylase (MCC) deficiency is reported. The first child of healthy consanguineous Turkish parents presented on the second day of life with dehydration, cyanosis, no sucking, generalized muscular hypotonia, encephalopathy, respiratory depression requiring mechanic ventilation, macrocephaly, severe acidosis and hypoglycaemia. Elevated C<jats:sub>5<\/jats:sub>\u2010OH\u2010carnitine in dried blood spot by tandem MS and elevated urinary excretion of 3\u2010hydroxyisovaleric acid and 3\u2010methylcrotonylglycine suggested MCC deficiency, confirmed by enzyme analysis in cultured fibroblasts. Cerebral ultrasonography and cranial CT findings revealed progressive changes such as disseminated encephalomalacia, cystic changes, ventricular dilatation and cerebral atrophy. Treatment with high\u2010dose biotin and protein\u2010restricted diet was ineffective and the patient died at the age of 33 days with progressive neurological deterioration. Mutation analysis revealed a homozygous mutation in the splice acceptor site of intron 15 in the MCC \u03b2\u2010subunit. Early\u2010onset severe necrotizing encephalopathy should be included in the differential diagnosis of isolated MCC deficiency.<\/jats:p>","DOI":"10.1007\/s10545-005-4559-8","type":"journal-article","created":{"date-parts":[[2005,5,4]],"date-time":"2005-05-04T09:14:17Z","timestamp":1115198057000},"page":"229-233","source":"Crossref","is-referenced-by-count":26,"title":["Consanguineous 3\u2010methylcrotonyl\u2010CoA carboxylase deficiency: Early\u2010onset necrotizing encephalopathy with lethal outcome"],"prefix":"10.1002","volume":"28","author":[{"given":"T.","family":"Baykal","sequence":"first","affiliation":[{"name":"Department Nutrition and Metabolism  Turkey"},{"name":"Istanbul Medical Faculty Istanbul University  Capa 34390 Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Huner","family":"Gokcay","sequence":"additional","affiliation":[{"name":"Department Nutrition and Metabolism  Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Ince","sequence":"additional","affiliation":[{"name":"Department Neonatology, Children's Hospital, Istanbul Medical Faculty Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. F.","family":"Dantas","sequence":"additional","affiliation":[{"name":"University Children's Hospital  Basel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Fowler","sequence":"additional","affiliation":[{"name":"University Children's Hospital  Basel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. R.","family":"Baumgartner","sequence":"additional","affiliation":[{"name":"University Children's Hospital  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Demir","sequence":"additional","affiliation":[{"name":"Department Nutrition and Metabolism  Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Can","sequence":"additional","affiliation":[{"name":"Department Neonatology, Children's Hospital, Istanbul Medical Faculty Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Demirkol","sequence":"additional","affiliation":[{"name":"Department Nutrition and Metabolism  Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,4]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-4559-8","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-4559-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T23:25:08Z","timestamp":1694820308000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-4559-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["10.1007\/s10545-005-4559-8"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-4559-8","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,4]]}}}