The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features

G. Karpati, S. Carpenter, Andrew G Engel, G. Watters, J. Allen, S. Rothman, G. Klassen, O. A. Mamer

Research output: Contribution to journalArticle

327 Citations (Scopus)

Abstract

An 11 yr old boy had had recurrent episodes of hepatic and cerebral dysfunction and underdeveloped musculature. Overt weakness developed at age 10. Lipid excess, especially in type I fibers, was found in muscle. Hypertrophied smooth endoplasmic reticulum and excessive microbodies were present in liver. Marked carnitine deficiency was shown in skeletal muscle, plasma and liver. Ketogenesis was impaired on a high fat diet, but omega oxidation of fatty acids was enhanced. There was excessive glucose uptake and essentially no oxidation of labeled long chain fatty acids by perfused forearm muscles in vivo. Oral replacement therapy restored plasma carnitine levels to normal, but not liver or muscle carnitine levels, and was accompanied by clinical improvement.

Original languageEnglish (US)
Pages (from-to)16-24
Number of pages9
JournalNeurology
Volume25
Issue number1
StatePublished - 1975

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Carnitine
Liver
Muscles
Fatty Acids
Microbodies
Smooth Endoplasmic Reticulum
High Fat Diet
Forearm
Skeletal Muscle
Lipids
Glucose
Systemic carnitine deficiency
Therapeutics

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Karpati, G., Carpenter, S., Engel, A. G., Watters, G., Allen, J., Rothman, S., ... Mamer, O. A. (1975). The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features. Neurology, 25(1), 16-24.

The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features. / Karpati, G.; Carpenter, S.; Engel, Andrew G; Watters, G.; Allen, J.; Rothman, S.; Klassen, G.; Mamer, O. A.

In: Neurology, Vol. 25, No. 1, 1975, p. 16-24.

Research output: Contribution to journalArticle

Karpati, G, Carpenter, S, Engel, AG, Watters, G, Allen, J, Rothman, S, Klassen, G & Mamer, OA 1975, 'The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features', Neurology, vol. 25, no. 1, pp. 16-24.
Karpati, G. ; Carpenter, S. ; Engel, Andrew G ; Watters, G. ; Allen, J. ; Rothman, S. ; Klassen, G. ; Mamer, O. A. / The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features. In: Neurology. 1975 ; Vol. 25, No. 1. pp. 16-24.
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