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Most patients present in the first 2\u2009days of life, with hypoketotic hypoglycaemia, hyperammonaemia, cardiomyopathy or arrhythmia, hepatomegaly and elevated liver enzymes. Multi\u2010centre international retrospective chart review of clinical presentation, biochemistry, treatment modalities including diet, subsequent complications, and mode of death of all patients. Twenty\u2010three patients from nine tertiary metabolic units were identified. Seven attenuated patients of Pakistani heritage, six of these homozygous c.82G&gt;T, had later onset manifestations and long\u2010term survival without chronic hyperammonemia. Of the 16 classical cases, 15 had cardiac involvement at presentation comprising cardiac arrhythmias (9\/15), cardiac arrest (7\/15), and cardiac hypertrophy (9\/15). Where recorded, ammonia levels were elevated in all but one severe case (13\/14 measured) and 14\/16 had hypoglycaemia. Nine classical patients survived longer\u2010term\u2014most with feeding difficulties and cognitive delay. Hyperammonaemia appears refractory to ammonia scavenger treatment and carglumic acid, but responds well to high glucose delivery during acute metabolic crises. High\u2010energy intake seems necessary to prevent decompensation. Anaplerosis utilising therapeutic <jats:sc>d<\/jats:sc>,<jats:sc>l<\/jats:sc>\u20103\u2010hydroxybutyrate, Triheptanoin and increased protein intake, appeared to improve chronic hyperammonemia and metabolic stability where trialled in individual cases. CACTD is a rare disorder of fatty acid oxidation with a preponderance to severe cardiac dysfunction. Long\u2010term survival is possible in classical early\u2010onset cases with long\u2010chain fat restriction, judicious use of glucose infusions, and medium chain triglyceride supplementation. Adjunctive therapies supporting anaplerosis may improve longer\u2010term outcomes.<\/jats:p>","DOI":"10.1002\/jimd.12371","type":"journal-article","created":{"date-parts":[[2021,2,26]],"date-time":"2021-02-26T10:49:12Z","timestamp":1614336552000},"page":"903-915","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["New insights into carnitine\u2010acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches"],"prefix":"10.1002","volume":"44","author":[{"given":"Bryony","family":"Ryder","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"National Metabolic Service Starship Children's Hospital  Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Inbar\u2010Feigenberg","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Glamuzina","sequence":"additional","affiliation":[{"name":"National Metabolic Service Starship Children's Hospital  Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Halligan","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disorders Birmingham Women's and Children's Hospital Foundation Trust  Birmingham UK"},{"name":"Department of Metabolic Medicine Evelina Children's Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roshni","family":"Vara","sequence":"additional","affiliation":[{"name":"Department of Metabolic Medicine Evelina Children's Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aoife","family":"Elliot","sequence":"additional","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital  Brisbane QLD Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Coman","sequence":"additional","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital  Brisbane QLD Australia"},{"name":"School of Medicine University of Queensland and Griffith University  Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahlee","family":"Minto","sequence":"additional","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital  Brisbane QLD Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Lewis","sequence":"additional","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital  Brisbane QLD Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Schiff","sequence":"additional","affiliation":[{"name":"Reference Centre for Inherited Metabolic Diseases, AP\u2010HP, Necker University Hospital University of Paris  Paris France"},{"name":"INSERM U1163, Institut Imagine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suresh","family":"Vijay","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disorders Birmingham Women's and Children's Hospital Foundation Trust  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhonda","family":"Akroyd","sequence":"additional","affiliation":[{"name":"National Metabolic Service Starship Children's Hospital  Auckland New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sue","family":"Thompson","sequence":"additional","affiliation":[{"name":"Department of Metabolic Genetics Sydney Children's Hospitals' Network NSW  Sydney New South Wales Australia"},{"name":"Faculty of Health and Medical Science University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"MacDonald","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disorders Birmingham Women's and Children's Hospital Foundation Trust  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail J. 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