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A 14-year-old girl, having mental and growth retardation with end stage renal disease, was affected by a stroke-like attack. The attack was associated with transient low density areas at both sides of the parietal portion on head CT. Lactic acidosis, hypertrophic cardiomyopathy, angina pectoris-like attacks, hypertension and hyperparathyroidism were also observed and they were supposedly due to mitochondrial cytopathy. No morphological or biochemical abnormalities were found on the mitochondrial respiratory chain. However, muscle carnitine palmitoyltransferase (CPT) activity was significantly low, which was restored to a normal level after hyperparathyroidism was controlled by alphacalcidol administration. Furthermore, we also found two more chronic renal failure patients with secondary hyperparathyroidism, as well as the primary hyperparathyroidism patient showing markedly low muscle CPT activity. These findings suggest the possible contribution of parathyroid hormone to lipid metabolism in skeletal muscle and to the myopathic manifestations often seen in hyperparathyroidism.

Secondary Carnitine Palmitoyltransferase Deficiency in Chronic Renal Failure and Secondary Hyperparathyroidism.