{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:16:49Z","timestamp":1789179409654,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,10,21]],"date-time":"2003-10-21T00:00:00Z","timestamp":1066694400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Deficiency of carnitine\/acylcarnitine translocase (CACT) is an autosomal recessive disorder of the carnitine cycle resulting in the inability to transfer fatty acids across the inner mitochondrial membrane. Only a limited number of affected patients have been reported and the effect of therapy on this condition is still not well defined. Here, we report a new patient with this disorder and follow the response to therapy. Our patient was the product of a consanguineous marriage. He presented shortly after birth with cardiac myopathy and arrhythmia coupled with severe non\u2010ketotic hypoglycemia. Initial metabolic studies indicated severe non\u2010ketotic C6\u2013C10 dicarboxylic aciduria, plasma carnitine deficiency, and a characteristic elevation of plasma C:16:0, C18:1, and C18:2 acylcarnitine species. Enzyme assay confirmed deficiency of CACT activity. Molecular studies indicated that this child was homozygous, and both parents heterozygous, for a single bp change converting glutamine 238 to arginine (Q238R). Therapy with a formula providing most of the fat via medium chain triglycerides (MCT) and carnitine supplementation reduced the concentration of long\u2010chain acylcarnitines and reversed cardiac symptoms and the hypoglycemia. These results suggest that carnitine and MCT may be effective in treating this defect of long\u2010chain fatty acid oxidation. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20573","type":"journal-article","created":{"date-parts":[[2004,3,26]],"date-time":"2004-03-26T16:16:05Z","timestamp":1080317765000},"page":"150-155","source":"Crossref","is-referenced-by-count":37,"title":["Response to therapy in carnitine\/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation"],"prefix":"10.1002","volume":"126A","author":[{"given":"Vito","family":"Iacobazzi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzia","family":"Pasquali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rani","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietrich","family":"Matern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Rinaldo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina Amat","family":"di San Filippo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferdinando","family":"Palmieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Longo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,10,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113978"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00205-6"},{"key":"e_1_2_6_4_1","first-page":"355","article-title":"Controlled study on L\u2010carnitine therapeutic efficacy in post\u2010infarction","volume":"18","author":"Davini P","year":"1992","journal-title":"Drugs Exp Clin Res"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-2999(91)90225-F"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005344-199312000-00013"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/301628"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1998.9738"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3210713"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi012183n"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310000644"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005548201355"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0215311"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0146-0005(99)80047-0"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199207023270104"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.128545"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.5.2356"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1010992900387"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20573","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20573","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T04:33:39Z","timestamp":1700195619000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20573"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,21]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,4,15]]}},"alternative-id":["10.1002\/ajmg.a.20573"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20573","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,21]]}}}