Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney

https://doi.org/10.1016/0022-510X(76)90137-4Get rights and content

Abstract

A fatal case of systemic carnitine deficiency is reported. The patient suffered from slowly progressive muscle weakness since early childhood. After the age of 17 years her weakness progressed more rapidly until her death at the age of 20. A pregnancy during the last year of the patient's life was followed by rapid deterioration in her condition. An episode of renal insufficiency occurred at the age of 17 years and hepatomegaly, increased BSP dye retention and intermittent ketoacidosis were present during the last month of her life. Biopsy and autopsy specimens of muscle showed a lipid storage myopathy. Type 1 fibers were selectively severely affected, and many Type 1 fibers were atrophic. Abundant large mitochondria, some also containing abnormal inclusions, were also present in the muscle fibers. At autopsy there was marked accumulation of sudanophilic lipid deposits in all hepatocytes, in the renal tubular epithelial cells, and a patchy increase of lipid material was found in the myocardial fibers. There was marked carnitine deficiency in the patient's liver as well as muscle, while the carnitine palmityltransferase activities in these tissues were abnormally high. The basic metabolic abnormality is assumed to be a defect in carnitine biosynthesis.

References (21)

There are more references available in the full text version of this article.

Cited by (86)

  • Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): An identified ketosis-induced metabolite

    2012, Metabolism: Clinical and Experimental
    Citation 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 Research
    Citation 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.

  • Disorders of lipid metabolism in skeletal muscle

    2000, Neurologic Clinics
    Citation 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.

View all citing articles on Scopus

Chargée de Recherche à l'INSERM.

∗∗

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.

View full text