1999
DOI: 10.1023/a:1005548201355
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Medium‐chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment

Abstract: The results of a medium-chain triglyceride loading test in a patient with severe carnitine-acylcarnitine translocase deficiency clearly demonstrated impaired in vivo utilization of medium-chain triglycerides. The loading test was performed at the ages of 7 and 36 months. The diet was adjusted accordingly. The clinical course has been favourable and the child is now in very good condition at age 4 years. We conclude that the utilization of medium-chain triglycerides is only partial in carnitine-acylcarnitine tr… Show more

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Cited by 20 publications
(14 citation statements)
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“…37 Cumulative experience in CACTD at Lcarnitine doses ranging from 50-300 mg/kg/day suggests supplementation does not lead to cardiotoxicity. 5,8,16,36 Esterification with carnitine may be the only route of detoxification of toxic acyl-CoA intermediates. 8 It is possible that the acylcarnitines accumulating in CACTD may be less toxic outside the mitochondrial matrix.…”
Section: T a B L E 3 (Continued)mentioning
confidence: 99%
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“…37 Cumulative experience in CACTD at Lcarnitine doses ranging from 50-300 mg/kg/day suggests supplementation does not lead to cardiotoxicity. 5,8,16,36 Esterification with carnitine may be the only route of detoxification of toxic acyl-CoA intermediates. 8 It is possible that the acylcarnitines accumulating in CACTD may be less toxic outside the mitochondrial matrix.…”
Section: T a B L E 3 (Continued)mentioning
confidence: 99%
“…Generation of beta-hydroxybutyrate in CACTD on MCT loading can be less than 50% of that in VLCADD (MIM#201475). 8 The exogenous ketone sodium D,L-3-hydroxybutyrate was given in 7 severe cases (patients 7-10, 12,13,16), as an assured source of ketones, with variable effect. Doses ranged from 300-900 mg/kg/ day.…”
Section: T a B L E 3 (Continued)mentioning
confidence: 99%
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“…Supplementation with 22:6 n ‐3 has already proven beneficial in improving retinal and muscle function in other disorders characterized by retinopathy and hypotonia and decreased 22:6 n ‐3 levels, such as Zellweger syndrome and neonatal adrenoleukodystrophy [63,64]. In addition, in diseases of long chain fatty acid β‐oxidation, supplementation with medium chain triglycerides (which is part of the conventional dietary treatment) should be decreased since dicarboxylic aciduria remains high when these triglycerides are included at relatively high levels [65]; dicarboxylic fatty acids are produced by microsomal–peroxisomal ω‐oxidation of excess monocarboxylic fatty acids. This is not surprising since, contrary to the conventional opinion, recent evidence suggests that exogenous medium chain fatty acids enter mitochondria as carnitine esters [66,67], and thus would be poorly β‐oxidized in the face of carnitine deficiency.…”
Section: Proposed Therapies For Disorders Of 22:6n‐3 Synthesismentioning
confidence: 99%
“…Interestingly, patient 3 had chronically elevated C10‐acylcarnitines while receiving MCT supplementation similar to previous studies (Figure 2). 8,9 Results from previous studies showed reduced oxidation of C10‐ to C24‐acylcarnitines in patients with CACTD after MCT‐oil loading compared with unaffected patients who demonstrated normal oxidation 8,9 . The authors hypothesized CACT is necessary for the translocation of C10–C24‐acylcarnitines across the mitochondrial membrane 8,9 .…”
Section: Discussionmentioning
confidence: 95%