Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: A functional defect of pyruvate oxidation?

S. DiDonato, M. Rimoldi, A. Moise, B. Bertagnoglio, G. Uziel

Research output: Contribution to journalArticle

Abstract

A 3-year 8-month-old girl died after 14 months of illness characterized by episodes of intermittent ataxia associated with oculomotor palsy, hypotonia, mental confusion, and disturbances of consciousness. In the last 4 months of life, there were signs of liver dysfunction. Pyruvate dehydrogenase and α-ketoglutarate dehydrogenase activities were normal in autopsy brain specimens and in cultured fibroblasts from the patient. Carnitine acetyltransferase was deficient in liver, brain, kidney, and cultured fibroblasts. Medium- and long-chain carnitine acyltransferase activities were normal. It is proposed that a functional defect of acetyl-coenzyme A (acetyl-CoA) utilization in brain mitochondria accompanies the carnitine acetyltransferase deficiency.

Original languageEnglish
Pages (from-to)1578-1583
Number of pages6
JournalNeurology
Volume29
Issue number12
Publication statusPublished - 1979

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Brain Diseases
Pyruvic Acid
Oxidoreductases
Brain
Carnitine Acyltransferases
Carnitine O-Acetyltransferase
Fibroblasts
Confusion
Acetyl Coenzyme A
Muscle Hypotonia
Ataxia
Consciousness
Paralysis
Liver Diseases
Autopsy
Mitochondria
Kidney
Liver
Carnitine Acetyltransferase Deficiency
Oxidation

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

DiDonato, S., Rimoldi, M., Moise, A., Bertagnoglio, B., & Uziel, G. (1979). Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: A functional defect of pyruvate oxidation? Neurology, 29(12), 1578-1583.

Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency : A functional defect of pyruvate oxidation? / DiDonato, S.; Rimoldi, M.; Moise, A.; Bertagnoglio, B.; Uziel, G.

In: Neurology, Vol. 29, No. 12, 1979, p. 1578-1583.

Research output: Contribution to journalArticle

DiDonato, S, Rimoldi, M, Moise, A, Bertagnoglio, B & Uziel, G 1979, 'Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: A functional defect of pyruvate oxidation?', Neurology, vol. 29, no. 12, pp. 1578-1583.
DiDonato S, Rimoldi M, Moise A, Bertagnoglio B, Uziel G. Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: A functional defect of pyruvate oxidation? Neurology. 1979;29(12):1578-1583.
DiDonato, S. ; Rimoldi, M. ; Moise, A. ; Bertagnoglio, B. ; Uziel, G. / Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency : A functional defect of pyruvate oxidation?. In: Neurology. 1979 ; Vol. 29, No. 12. pp. 1578-1583.
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