TY - JOUR
T1 - Myoglobinuria and carnitine palmityltransferase (CPT) deficiency
T2 - Studies with malonyl-CoA suggest absence of only CPT-II
AU - Trevisan, Carlo P.
AU - Angelini, Corrado
AU - Freddo, Lorenza
AU - Isaya, Grazia
AU - Martinuzzi, Andrea
PY - 1984/3
Y1 - 1984/3
N2 - 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.
AB - 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.
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U2 - 10.1212/wnl.34.3.353
DO - 10.1212/wnl.34.3.353
M3 - Article
C2 - 6538275
AN - SCOPUS:0021337073
SN - 0028-3878
VL - 34
SP - 353
EP - 356
JO - Neurology
JF - Neurology
IS - 3
ER -