TY - JOUR
T1 - Exercise-induced recurrent myoglobinuria
T2 - Defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients
AU - Trevisan, Carlo P.
AU - Isaya, Grazia
AU - Angelini, Corrado
PY - 1987/7
Y1 - 1987/7
N2 - In carnitine palmitoyltransferase (CPT) deficiency, it is not known whether the outer (CPT-I) and the inner (CPT-II) mitochondrial activities are equally altered. By two different assays, we found that CPT activity in fresh intact mitochondria of two patients was normal or increased, indicating an active outer CPT. In controls and in one of the two patients, the isotope-exchange assay was also evaluated after disruption of mitochondria by sonication: in controls the activity almost doubled because of the contribution of inner CPT to the assay, but in the patients it did not increase, indicating absence of the CPT-II activity. After further disruption of mitochondria by freezing and all-glass homogenization, CPT activity in patients decreased to 36% and 10% of control. These data suggest that CPT deficiency was limited to the inner mitochondrial activity. The alteration could be explained by mutation of the membrane factor that determines in situ differences between CPT-I and II.
AB - In carnitine palmitoyltransferase (CPT) deficiency, it is not known whether the outer (CPT-I) and the inner (CPT-II) mitochondrial activities are equally altered. By two different assays, we found that CPT activity in fresh intact mitochondria of two patients was normal or increased, indicating an active outer CPT. In controls and in one of the two patients, the isotope-exchange assay was also evaluated after disruption of mitochondria by sonication: in controls the activity almost doubled because of the contribution of inner CPT to the assay, but in the patients it did not increase, indicating absence of the CPT-II activity. After further disruption of mitochondria by freezing and all-glass homogenization, CPT activity in patients decreased to 36% and 10% of control. These data suggest that CPT deficiency was limited to the inner mitochondrial activity. The alteration could be explained by mutation of the membrane factor that determines in situ differences between CPT-I and II.
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U2 - 10.1212/wnl.37.7.1184
DO - 10.1212/wnl.37.7.1184
M3 - Article
C2 - 3601082
AN - SCOPUS:0023278683
VL - 37
SP - 1184
EP - 1188
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 7
ER -