Malonyl-CoA abnormal inhibition of residual enzyme activity in carnitine palmitoyltransferase deficiency

C. P. Trevisan, C. Angelini, L. A. Fiorellini, G. Isaya, G. Zacchello

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

The residual enzyme activity in tissues of a 6-year-old boy with myoglobinuria and carnitine palmitoyltransferase (CPT) deficiency was studied with malonyl-CoA, a specific inhibitor of CPT-I rat tissues. In this patient the enzyme deficiency was limited to the CPT fraction insensitive to malonyl-CoA, since the residual activity was an increased amount of CPT sensitive to the inhibitor. CPT sensitivity to malonyl-CoA was also assayed in human liver mitochondria, and inhibition was similar to that found in rat liver. Moreover, comparative data on human liver mitochondria and biopsy specimens showed that, after freezethawing and homogenization, CPT sensitivity to malonyl-CoA was decreased in both these preparations, indicating that studies of CPT inhibition by malonyl-CoA in homogenates of frozen tissues may be equated to those in homogenates of frozen mitochondria.

Original languageEnglish (US)
Pages (from-to)309-316
Number of pages8
JournalEuropean Neurology
Volume25
Issue number4
DOIs
StatePublished - Jan 1 1986

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Trevisan, C. P., Angelini, C., Fiorellini, L. A., Isaya, G., & Zacchello, G. (1986). Malonyl-CoA abnormal inhibition of residual enzyme activity in carnitine palmitoyltransferase deficiency. European Neurology, 25(4), 309-316. https://doi.org/10.1159/000116027