SECONDARY CARNITINE PALMITOYLTRANSFERASE DEFICIENCY IN CHRONIC-RENAL-FAILURE AND SECONDARY HYPERPARATHYROIDISM

A 14-year-old girl, having mental and growth retardation with end stag e renal disease, was affected by a stroke-like attack. The attack was associated with transient low density areas at both sides of the parie tal portion on head CT. Lactic acidosis, hypertrophic cardiomyopathy, angina pectoris-like attacks, hypertension and hyperparathyroidism wer e also observed and they were supposedly due to mitochondrial cytopath y. No morphological or biochemical abnormalities were found on the mit ochondrial respiratory chain. However, muscle carnitine palmitoyltrans ferase (CPT) activity was significantly low, which was restored to a n ormal level after hyperparathyroidism was controlled by alphacalcidol administration. Furthermore, me also found two more chronic renal fail ure patients with secondary hyperparathyroidism, as well as the primar y hyperparathyroidism patient showing markedly low muscle CPT activity . These findings suggest the possible contribution of parathyroid horm one to lipid metabolism in skeletal muscle and to the myopathic manife stations often seen in hyperparathyroidism.