Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney
References (21)
- et al.
Oxidation of branched chain amino acids by isolated hearts and diaphragms of the rat
J. biol. Chem.
(1972) - et al.
A method for the determination of carnitine in the picomole range
Clin. chim. Acta
(1972) - et al.
Enzymological determination of free carnitine concentration in rat tissues
J. Lipid Res.
(1964) - et al.
Origin and possible significance of alanine production by skeletal muscle
J. biol. Chem.
(1974) - et al.
Inborn error of carnitine metabolism (“carnitine deficiency”) in man
Lancet
(1975) - et al.
The localization of palmitoyl-CoA:carnitine palmitoyl transferase in rat liver
Biochim. biophys. Acta
(1969) - et al.
Carnitine deficiency of skeletal muscle — Report of a treated case
Neurology (Minneap.)
(1976) - et al.
Site of carnitine (carn) biosynthesis in the rat
- et al.
Carnitine deficiency of human muscle with associated lipid storage myopathy — A new syndrome
Science
(1973) - et al.
Lipid storage myopathy responsive to prednisone
Arch. Neurol. (Chic.)
(1972)
Cited by (86)
Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): An identified ketosis-induced metabolite
2012, Metabolism: Clinical and ExperimentalCitation Excerpt :It also was suggested that the transfer of activated acyl groups to carnitine is necessary for transport between subcellular compartments (eg, mitochondrial membrane) and organs and may be a reservoir of energy [27]. Furthermore, ketosis can induce severe acidosis and activation of D-3HB; and subsequent transfer to carnitine may prevent ketoacidosis during fasting [29]. Whether D-3HB-carnitine plays a role in the induction of insulin resistance as suggested earlier [5] needs further study as discussed above.
Hepatic response to aluminum toxicity: Dyslipidemia and liver diseases
2011, Experimental Cell ResearchCitation Excerpt :Moreover, the recovery of l-carnitine with KG illustrates that Al or ROS toxicity diminishes the availability of this α-ketoacid for biosynthetic processes since it is being used for ROS detoxification. The inability to maintain l-carnitine levels is associated with aberrant lipid accumulation in skeletal muscle, heart, liver and kidney [66]. The metabolic networks favoring the production of NADPH and citrate coupled with the decrease in the synthesis of l-carnitine observed in Al-exposed hepatocytes are phenomena associated with the metabolic syndrome and obesity.
Primary carnitine deficiency: Adult onset lipid storage myopathy with a mild clinical course
2004, Journal of Clinical NeuroscienceDisorders of lipid metabolism in skeletal muscle
2000, Neurologic ClinicsCitation Excerpt :Like skeletal myopathy, cardiomyopathy probably results directly from impaired FAO in muscle and perhaps from lipid deposition in muscle.16 Pregnancy may unmask systemic carnitine deficiency in previously asymptomatic patients or may exacerbate symptoms in affected individuals.2, 13, 23 Between attacks, the results of routine laboratory studies may be completely normal.
A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse
1998, Biochemical and Biophysical Research CommunicationsNeurologic conditions affecting the cardiovascular system
1990, Current Problems in Cardiology
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Chargée de Recherche à l'INSERM.
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Work done in Dr. A. G. Engel's laboratory was supported, in part, by NIH Grant NSO 6277 and by a Research Center Grant from the American Muscular Dystrophy Association.