Alterazioni mitocondriali nelle malattie dismetaboliche. Difetti di carnitina, carnitina palmitiltransferasi e beta ossidazione.

Translated title of the contribution: Alterations of mitochondria in metabolic diseases. Carnitine deficiency, carnitine palmitoyltransferase deficiency and beta oxidation.

C. Angelini

Research output: Contribution to journalArticle

Abstract

Recently a number of defects of fatty acid transport and beta-oxidation have been described. Primary carnitine deficiency presents itself as muscle carnitine deficiency, systemic carnitine deficiency or a cardiomyopathic subtype. Another abnormality of fatty acid transport is due to inner carnitine palmitoyl transferase deficiency, usually associated with a myoglobinuric phenotype. Long chain, medium and short chain acyl-CoA-dehydrogenase defects are usually associated to Reye's syndrome, encephalopathy, organic aciduria and secondary carnitine deficiency.

Translated title of the contributionAlterations of mitochondria in metabolic diseases. Carnitine deficiency, carnitine palmitoyltransferase deficiency and beta oxidation.
Original languageItalian
Pages (from-to)330-334
Number of pages5
JournalActa Neurologica
Volume11
Issue number5
Publication statusPublished - Oct 1989

ASJC Scopus subject areas

  • Clinical Neurology

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