Systemic carnitine deficiency with peripheral nerve involvement morphological and biochemical study.

F. Cornelio, D. Peluchetti, M. Rimoldi, D. Testa, M. Mora, S. Negri, S. DiDonato

Research output: Contribution to journalArticle

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Abstract

The patient, a 31-year-old woman, suffered from a weakness of the proximal muscles which subsequently worsened involving the spinal and neck muscles. During the hospitalization, the patient displayed a "burning feet" syndrome. Lab tests showed a moderate increase in CPK, Aldolase, SGPT, SGOT, lactic and pyruvic acids. Needle EMG was interpreted as "myopathic" but a marked reduction of sensitive action potentials was also detected. Muscle biopsy showed neutral lipid accumulation in muscle fibers, many small angular fibers, probably denervated ones were also evident. A liver biopsy showed fatty accumulation in hepatocytes. Free carnitine was extremely reduced in muscle and liver and just below normal level in plasma while there was a tenfold elevation of long-chain carnitine esters in plasma too. The mechanism by which carnitine deficiency can cause both neural and muscular alterations and in particular the role of carnitine in glucose metabolism is discussed.

Original languageEnglish
Pages (from-to)226-229
Number of pages4
JournalActa neuropathologica. Supplementum
Volume7
Publication statusPublished - 1981

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Carnitine
Peripheral Nerves
Muscles
Neck Muscles
Biopsy
Fructose-Bisphosphate Aldolase
Liver
Muscle Weakness
Aspartate Aminotransferases
Alanine Transaminase
Pyruvic Acid
Action Potentials
Needles
Foot
Hepatocytes
Lactic Acid
Esters
Hospitalization
Lipids
Glucose

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Cornelio, F., Peluchetti, D., Rimoldi, M., Testa, D., Mora, M., Negri, S., & DiDonato, S. (1981). Systemic carnitine deficiency with peripheral nerve involvement morphological and biochemical study. Acta neuropathologica. Supplementum, 7, 226-229.

Systemic carnitine deficiency with peripheral nerve involvement morphological and biochemical study. / Cornelio, F.; Peluchetti, D.; Rimoldi, M.; Testa, D.; Mora, M.; Negri, S.; DiDonato, S.

In: Acta neuropathologica. Supplementum, Vol. 7, 1981, p. 226-229.

Research output: Contribution to journalArticle

Cornelio, F, Peluchetti, D, Rimoldi, M, Testa, D, Mora, M, Negri, S & DiDonato, S 1981, 'Systemic carnitine deficiency with peripheral nerve involvement morphological and biochemical study.', Acta neuropathologica. Supplementum, vol. 7, pp. 226-229.
Cornelio, F. ; Peluchetti, D. ; Rimoldi, M. ; Testa, D. ; Mora, M. ; Negri, S. ; DiDonato, S. / Systemic carnitine deficiency with peripheral nerve involvement morphological and biochemical study. In: Acta neuropathologica. Supplementum. 1981 ; Vol. 7. pp. 226-229.
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