{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T17:01:47Z","timestamp":1787677307235,"version":"build-2784847793"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2\/ \u201cbeta-ketothiolase\u201d) is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in\n                      <jats:italic>ACAT1<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed a systematic literature search for all available clinical descriptions of patients with MATD. Two hundred forty-four patients were identified and included in this analysis. Clinical course and biochemical data are presented and discussed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>For 89.6% of patients at least one acute metabolic decompensation was reported. Age at first symptoms ranged from 2\u2009days to 8\u2009years (median 12\u2009months). More than 82% of patients presented in the first 2 years of life, while manifestation in the neonatal period was the exception (3.4%). 77.0% (157 of 204 patients) of patients showed normal psychomotor development without neurologic abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This comprehensive data analysis provides a systematic overview on all cases with MATD identified in the literature. It demonstrates that MATD is a rather benign disorder with often favourable outcome, when compared with many other organic acidurias.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-020-01357-0","type":"journal-article","created":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T07:04:04Z","timestamp":1588057444000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways"],"prefix":"10.1186","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5986-0468","authenticated-orcid":false,"given":"Sarah C.","family":"Gr\u00fcnert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2903-4872","authenticated-orcid":false,"given":"J\u00f6rn Oliver","family":"Sass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,4,28]]},"reference":[{"key":"1357_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1177\/2326409818771101","volume":"6","author":"JO Sass","year":"2018","unstructured":"Sass JO, Fukao T, Mitchell GA. Inborn errors of ketone body metabolism and transport: an update for the clinic and for clinical laboratories. J Inborn Errors Metab Screen. 2018;6:1\u20137. https:\/\/doi.org\/10.1177\/2326409818771101.","journal-title":"J Inborn Errors Metab Screen"},{"key":"1357_CR2","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1007\/s10545-017-0021-y","volume":"40","author":"S Paquay","year":"2017","unstructured":"Paquay S, Bourillon A, Pichard S, Benoist J-F, de Lonlay P, Dobbelaere D, et al. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. J Inherit Metab Dis. 2017;40:415\u201322.","journal-title":"J Inherit Metab Dis"},{"key":"1357_CR3","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1007\/s10545-017-0026-6","volume":"40","author":"KN Nguyen","year":"2017","unstructured":"Nguyen KN, Abdelkreem E, Colombo R, Hasegawa Y, Can NTB, Bui TP, et al. 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JOS serves as consultant of a medical diagnostic laboratory in ketone body metabolism and he and his institution have received honoraria\/a reimbursement by the company SoBi.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"106"}}