{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T17:39:35Z","timestamp":1790962775935,"version":"4.1.0"},"reference-count":3,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T00:00:00Z","timestamp":1492041600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T00:00:00Z","timestamp":1492041600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"New South Wales Office of Health and Medical Research Council Sydney Genomics Collaborative grant"},{"name":"NHMRC project grant","award":["1026891"],"award-info":[{"award-number":["1026891"]}]},{"name":"Crane and Perkins families"},{"DOI":"10.13039\/501100003246","name":"Netherlands Organisation for Scientific Research","doi-asserted-by":"crossref","award":["017.008.052"],"award-info":[{"award-number":["017.008.052"]}],"id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Dutch Stofwisselkracht foundation"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)\u2013congenital disorders of glycosylation (CDG) complex; combined disorder of N\u2010 and O\u2010linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline\u20105\u2010carboxylate reductase 1 deficiency; pyrroline\u20105\u2010carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6\u2010interacting (GORAB or SCYL1BP1) gene; and mitogen\u2010activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non\u2010receptor\u2010type 11 (PTPN11), RAF, NF, HRas proto\u2010oncogene, GTPase (HRAS), B\u2010Raf proto\u2010oncogene, serine\/threonine kinase (BRAF), MEK1\/2, KRAS proto\u2010oncogene, GTPase (KRAS), SOS Ras\/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto\u2010oncogene, GTPase (NRAS), and Raf\u20101 proto\u2010oncogene, serine\/threonine kinase (RAF1)], which regulate the Ras\u2010MAPK cascade. Here, we further expand the list of inborn errors of metabolism associated with cutis laxa by describing the clinical presentation of a 17\u2010month\u2010old girl with Leigh\u2010like syndrome due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency, a mitochondrial matrix enzyme that catalyzes the second step of the beta\u2010oxidation spiral of fatty acids and plays an important role in amino acid catabolism, particularly valine.<\/jats:p>","DOI":"10.1007\/s10545-017-0036-4","type":"journal-article","created":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T10:19:49Z","timestamp":1492078789000},"page":"745-747","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Unique presentation of cutis laxa with Leigh\u2010like syndrome due to <i>ECHS1<\/i> deficiency"],"prefix":"10.1002","volume":"40","author":[{"given":"S.","family":"Balasubramaniam","sequence":"first","affiliation":[{"name":"Western Sydney Genetics Program The Children's Hospital at Westmead Sydney NSW 2145 Australia"},{"name":"Genetic Metabolic Disorders Service, Western Sydney Genetics Program The Children's Hospital at Westmead Cnr Hawkerbusry Rd and Hainworth St, Locked Bag 4001 Westmead NSW 2145 Australia"},{"name":"Discipline of Genetic Medicine, Sydney Medical School University of Sydney Sydney NSW 2145 Australia"},{"name":"Discipline of Paediatrics &amp; Child Health, Sydney Medical School University of Sydney Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. G.","family":"Riley","sequence":"additional","affiliation":[{"name":"Discipline of Paediatrics &amp; Child Health, Sydney Medical School University of Sydney Sydney NSW Australia"},{"name":"Genetic Metabolic Disorders Research Unit The Children's Hospital at Westmead, KRI Sydney NSW 2145 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Bratkovic","sequence":"additional","affiliation":[{"name":"Metabolic Unit, SA Pathology Women's and Children's Hospital North Adelaide SA 5006 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Ketteridge","sequence":"additional","affiliation":[{"name":"Metabolic Unit, SA Pathology Women's and Children's Hospital North Adelaide SA 5006 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Manton","sequence":"additional","affiliation":[{"name":"Department of Surgical Pathology, SA Pathology Women's and Children's Hospital North Adelaide SA 5006 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. J.","family":"Cowley","sequence":"additional","affiliation":[{"name":"Kinghorn Centre for Clinical Genomics Garvan Institute of Medical Research Sydney NSW 2010 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Gayevskiy","sequence":"additional","affiliation":[{"name":"Kinghorn Centre for Clinical Genomics Garvan Institute of Medical Research Sydney NSW 2010 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Roscioli","sequence":"additional","affiliation":[{"name":"Kinghorn Centre for Clinical Genomics Garvan Institute of Medical Research Sydney NSW 2010 Australia"},{"name":"St Vincent's Clinical School University of New South Wales Sydney NSW 2010 Australia"},{"name":"Department of Medical Genetics Sydney Children's Hospital Randwick Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Institute for Genetic and Metabolic Disease Radboud University Medical Centre Nijmegen Nijmegen 6500 The Netherlands"},{"name":"Department of Pediatrics Radboud University Medical Centre Nijmegen Nijmegen 6500 The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Gardeitchik","sequence":"additional","affiliation":[{"name":"Institute for Genetic and Metabolic Disease Radboud University Medical Centre Nijmegen Nijmegen 6500 The Netherlands"},{"name":"Department of Pediatrics Radboud University Medical Centre Nijmegen Nijmegen 6500 The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Morava","sequence":"additional","affiliation":[{"name":"Institute for Genetic and Metabolic Disease Radboud University Medical Centre Nijmegen Nijmegen 6500 The Netherlands"},{"name":"Hayward Genetics Center Tulane University Medical Center New Orleans LA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"Western Sydney Genetics Program The Children's Hospital at Westmead Sydney NSW 2145 Australia"},{"name":"Discipline of Genetic Medicine, Sydney Medical School University of Sydney Sydney NSW 2145 Australia"},{"name":"Discipline of Paediatrics &amp; Child Health, Sydney Medical School University of Sydney Sydney NSW Australia"},{"name":"Genetic Metabolic Disorders Research Unit The Children's Hospital at Westmead, KRI Sydney NSW 2145 Australia"},{"name":"Murdoch Children's Research Institute and Victorian Clinical Genetics Services Royal Children's Hospital Melbourne VIC Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,4,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0290-1"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9305-9"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1577-y"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10545-017-0036-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-017-0036-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-017-0036-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-017-0036-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T08:34:32Z","timestamp":1694766872000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-017-0036-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,13]]},"references-count":3,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["10.1007\/s10545-017-0036-4"],"URL":"https:\/\/doi.org\/10.1007\/s10545-017-0036-4","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,13]]}}}