Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase‐1 deficiency

Stanley, Charles A.; Sunaryo, F.; Hale, Daniel E.; Bonnefont, Jean‐Paul; Demaugre, F.; Saudubray, Jean Marie

doi:10.1007/bf01800021

Cited by 44 publications

(12 citation statements)

References 10 publications

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“…Kuhajda and Ronnett (2007) suggested the possibility for the treatment of obesity by modulation of CPT 1 activity. However, CPT 1 deficiency is characterized to be an elevated level of plasma carnitine due to excessive free carnitine (Stanley et al, 1992;Bonnefont et al, 1999;Longo et al, 2006), which is contradictory to our results showing the elevated plasma acylcarnitine level in the obese group. Unfortunately, we did not perform individual acylcarnitine profile analyses which could induce increase or decrease in the production of individual carnitine species (C2-C18 acylcarnitines profile).…”

Section: Discussioncontrasting

confidence: 99%

Characterization of Plasma Carnitine Level in Obese Adolescent Korean Women

Yoo¹,

Yoon²,

Shin³

et al. 2009

Biomolecules and Therapeutics

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-Carnitine is known to be involved in lipid metabolism and affects body composition as well as energy metabolism of the whole body. Improvement of obesity by L-carnitine supplement suggests that obesity can be related with the abnormality of carnitine metabolism and therefore, plasma carnitine level in normal and obesity groups was investigated. For the characterization of plasma carnitine level in obese people, 60 plasma samples collected from Korean women subjects were analyzed using LC/MS and plasma fatty acid level was also determined using GC/MS. Additionally, several clinical chemical parameters including fasting glucose, cholesterol, AST, and ALT level were measured. All the data obtained were combined and pattern recognition analysis was carried out with the dataset. Obese group showed a different metabolic pattern compared with normal group. Plasma acylcarnitine level of the obese group was found to be 11.7 μg/ml, which was higher than that of normal group (8.0 μg/ml). Statistically significant differences in plasma fatty acid level were not observed between the two groups. Other clinical parameters for the obese group were within normal ranges but AST and ALT levels were slightly elevated compared to normal group. The obese group showed elevated plasma acylcarnitine level.

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Section: Discussioncontrasting

confidence: 99%

Characterization of Plasma Carnitine Level in Obese Adolescent Korean Women

Yoo¹,

Yoon²,

Shin³

et al. 2009

Biomolecules and Therapeutics

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“…Inhibitory effects of acylcarnitines on free carnitine transport in other tissues might also contribute to the low levels of carnitine found in muscle and liver in patients with acyl-CoA oxidation defects (2). The hypothesis is consistent with observations that secondary carnitine deficiency is a feature common to all of the known fatty acid oxidation defects that lead to accumulation of acylcarnitines (23), whereas plasma carnitine concentrations and the renal free carnitine threshold are elevated in carnitine palmitoyltransferase-1 deficiency, the one defect in which acylcarnitine formation is blocked (24). A partial, but incomplete, inhibition of free carnitine transport by acylcarnitines is consistent with the observation that patients with acyl-CoA oxidation defects have an intermediate degree of carnitine deficiency that is stable over time ( Table 1) similar to that seen in heterozygous parents of patients with the genetic carnitine transport defect (10).…”

Section: Panels 1 and 2 Insupporting

confidence: 90%

Renal Handling of Carnitine in Secondary Carnitine Deficiency Disorders

et al. 1993

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. Connecfic~rt 061 15 [W.R.T.] ABSTRACI'. Reduced plasma and tissue concentrations of carnitine, a cofactor required for fatty acid osidation, are present in patients with inherited disorders of mitochondrial acyl-CoA oxidation that are associated with accumulations of acylcarnitines. To determine whether the secondary carnitine deficiency in these patients is due to excessive urinary loss of acylcarnitines, the development of carnitine deficiency was examined in patients with four different acyl-CoA oxidation disorders, including medium-chain and long-chain fatty acyl-CoA dehydrogenase deficiencies, isovaleric acidemia, and propionic acidemia. After a 3-mo period of treatment with oral carnitine to raise plasma total carnitine concentrations to or above normal, patients were started on a carnitine-free diet and the changes in plasma total and free carnitine levels and urinary total and free carnitine escretion were followed for 5 d. Patients with all four disorders showed a return of plasma carnitine levels and urinary carnitine escretion to baseline within 2 to 4 d. The rapidity of these changes could not be explained solely by escessive acylcarnitine wasting. Continued escretion of free carnitine in all patients indicated the additional presence of an impairment in renal transport of free carnitine. Consistent with this interpretation, estimates of renal thresholds for free carnitine gave values that were less than that for a control child in all four disorders and ranged as low as one half those reported in normal individuals. These results suggest that secondary carnitine deficiency in the acyl-CoA oxidation disorders is due to indirect as well as direct effects of accumulated acylcarnitines. Lowered renal free carnitine thresholds in these patients may reflect inhibition of free carnitine transport in the kidney by acylcarnitines. (Pediatr Res 34: 89-97, 1993) Abbreviations IVA, isovaleric acidemia LCAD, long-chain acyl-CoA dehydrogenase deficiency MCAD, medium-chain acyl-CoA dehydrogenase deficiency MMA, methylmalonic aciduria ' PA, propionic acidemia

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“…Since the first report in 1981 (Bougneres et al, 1981), over 20 families have been reported (Demaugre et al, 1988;Tein et al, 1989;Bonnefont et al, 1989;Vianey-Saban et al, 1993;Gray et al, 1991;Stanley et al, 1992;Haworth et al, 1992;Falik-Borenstein et al, 1992;Yamamoto et al, 1994;Bergman et al, 1994;Schaefer et al, 1997;Innes et al, 1997;Ijlst et al, 1998;Olpin et al, 2001;Sim et al, 2001;Invernizzi et al, 2001;Al-Aqeel et al, 2001). The sex ratio is about one.…”

Section: Medical Aspects: the Cpt Deficienciesmentioning

confidence: 94%