A 23-year-old man suffered since adolescence from recurrent myoglobinuria. His ketone body production during fasting was normal. Muscle, liver, and platelet carnitine palmityltransferase (CPT) ranged from 4 to 27% of control by isotope exchange and backward assays. Forward CPT activity was 34% of control in liver, whereas in muscle and platelets it was either normal or absent depending on the experimental conditions. CPT residual activity was studied with malonyl-CoA, a physiologic inhibitor of CPT-I (sensitive fraction) in rat liver mitochondria. In our patient, the insensitive fraction was missing in muscle, liver, and platelets, while the sensitive fraction was increased considerably in the same tissues. Similar results were obtained in platelets of two other patients with CPT deficiency. Increased malonyl-CoA sensitive CPT and decreased mal-onyl-CoA insensitive CPT suggest absence of only the CPT-II isoenzyme in these patients. © 1983 American Academy of Neurology.

Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: Studies with malonyl-CoA suggest absence of only CPT-II

Trevisan C. P.;Angelini C.;
1984

Abstract

A 23-year-old man suffered since adolescence from recurrent myoglobinuria. His ketone body production during fasting was normal. Muscle, liver, and platelet carnitine palmityltransferase (CPT) ranged from 4 to 27% of control by isotope exchange and backward assays. Forward CPT activity was 34% of control in liver, whereas in muscle and platelets it was either normal or absent depending on the experimental conditions. CPT residual activity was studied with malonyl-CoA, a physiologic inhibitor of CPT-I (sensitive fraction) in rat liver mitochondria. In our patient, the insensitive fraction was missing in muscle, liver, and platelets, while the sensitive fraction was increased considerably in the same tissues. Similar results were obtained in platelets of two other patients with CPT deficiency. Increased malonyl-CoA sensitive CPT and decreased mal-onyl-CoA insensitive CPT suggest absence of only the CPT-II isoenzyme in these patients. © 1983 American Academy of Neurology.
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11577/3448172
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 29
  • ???jsp.display-item.citation.isi??? ND
social impact