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dc.contributor.authorRyder, B
dc.contributor.authorInbar-Feigenberg, M
dc.contributor.authorGlamuzina, E
dc.contributor.authorHalligan, R
dc.contributor.authorVara, R
dc.contributor.authorElliot, A
dc.contributor.authorComan, D
dc.contributor.authorMinto, T
dc.contributor.authorLewis, K
dc.contributor.authorSchiff, M
dc.contributor.authorVijay, S
dc.contributor.authorAkroyd, R
dc.contributor.authorThompson, S
dc.contributor.authorMacDonald, A
dc.contributor.authoret al.
dc.date.accessioned2021-03-09T23:58:30Z
dc.date.available2021-03-09T23:58:30Z
dc.date.issued2021
dc.identifier.issn0141-8955
dc.identifier.doi10.1002/jimd.12371
dc.identifier.urihttp://hdl.handle.net/10072/403020
dc.description.abstractBACKGROUND: Carnitine acyl-carnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial long-chain fatty-acid transport. Most patients present in the first two days of life, with hypoketotic hypoglycaemia, hyperammonaemia, cardiomyopathy or arrhythmia, hepatomegaly and elevated liver enzymes. METHOD: Multi-centre international retrospective chart review of clinical presentation, biochemistry, treatment modalities including diet, subsequent complications, and mode of death of all patients. RESULTS: Twenty-three patients from nine tertiary metabolic units were identified. Seven attenuated patients of Pakistani heritage, 6 of these homozygous c.82G>T, had later onset manifestations and long-term survival without chronic hyperammonemia. Of the sixteen classical cases, fifteen 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-term - most 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-energy intake seems necessary to prevent decompensation. Anaplerosis utilizing therapeutic D,L-3-hydroxybutyrate, Triheptanoin and increased protein intake, appeared to improve chronic hyperammonemia and metabolic stability where trialled in individual cases. CONCLUSION: CACTD is a rare disorder of fatty acid oxidation with a preponderance to severe cardiac dysfunction. Long-term survival is possible in classical early-onset cases with long-chain fat restriction, judicious use of glucose infusions, and medium chain triglyceride supplementation. Adjunctive therapies supporting anaplerosis may improve longer-term outcomes. This article is protected by copyright. All rights reserved.
dc.description.peerreviewedYes
dc.languageeng
dc.publisherWiley
dc.relation.ispartofjournalJournal of Inherited Metabolic Disease (JIMD)
dc.subject.fieldofresearchClinical sciences
dc.subject.fieldofresearchcode3202
dc.subject.keywordsCarnitine acyl-carnitine translocase deficiency
dc.subject.keywordsTriheptanoin
dc.subject.keywordsanaplerosis
dc.subject.keywordscarnitine shuttle
dc.subject.keywordshyperammonaemia
dc.titleNew insights into carnitine-acylcarnitine translocase deficiency from twenty-three cases: management challenges and potential therapeutic approaches
dc.typeJournal article
dc.type.descriptionC1 - Articles
dcterms.bibliographicCitationRyder, B; Inbar-Feigenberg, M; Glamuzina, E; Halligan, R; Vara, R; Elliot, A; Coman, D; Minto, T; Lewis, K; Schiff, M; Vijay, S; Akroyd, R; Thompson, S; MacDonald, A; et al., New insights into carnitine-acylcarnitine translocase deficiency from twenty-three cases: management challenges and potential therapeutic approaches, Journal of Inherited Metabolic Disease (JIMD), 2021
dcterms.dateAccepted2021-02-23
dc.date.updated2021-03-09T23:09:28Z
dc.description.versionAccepted Manuscript (AM)
gro.description.notepublicThis publication has been entered in Griffith Research Online as an advanced online version.
gro.rights.copyright© 2021 Society for the Study of Addiction. This is the peer reviewed version of the following article: New insights into carnitine-acylcarnitine translocase deficiency from twenty-three cases: management challenges and potential therapeutic approaches, Journal of Inherited Metabolic Disease (JIMD), 2021, which has been published in final form at https://doi.org/10.1002/jimd.12371. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving (http://olabout.wiley.com/WileyCDA/Section/id-828039.html)
gro.hasfulltextFull Text
gro.griffith.authorComan, Dave J.


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