An 11 -year-old boy had had recurrent episodes of hepatic and cerebral dysfunction and underdeveloped musculature. Overt weakness developed at age 10. Lipid excess, especially in type I fibers, was found in muscle. Hypertrophied smooth endoplasmic reticulum and excessive microbodies were present in liver. Marked carnitine deficiency was shown in skeletal muscle, plasma, and liver. Ketogenesis was impaired on a high fat diet, but omega oxidation of fatty acids was enhanced. There was excessive glucose uptake and essentially no oxidation of labeled long-chain fatty acids by perfused forearm muscles in vivo. Oral replacement therapy restored plasma carnitine levels to normal, but not liver or muscle carnitine levels, and was accompanied by clinical improvement.The syndrome of systemic carnitine deficiency Clinical, morphologic, biochemical, and pathophysiologic features n 1972 Engel and Siekert described an unusual I variety of lipid storage myopathy in a 24-year-old woman. * The unusual features included a striking beneficial response to corticosteroid therapy and the c o e x i s t e n c e of a b n o r m a l l i v e r f u n c t i o n t e s t s . Subsequently, Engel and Angelini found that the skeletal muscle of this patient had a very low level of carnitine, and in vifro oxidation of fatty acids by her muscle was considerably reduced. 2 -3 This patient was the first recognized human example of carnitine deficiency. Since that report, at least four other patients have been identified. [4][5][6][7] This paper is a detailed report of a patient with systemic carnitine d e f i~i e n c y ,~ with special attention to the vaned clinical, morphologic, biochemical, and metabolic features of this disorder. Dr. Karpati's address is Montreal Neurological Institute, 3801 University St., Montreal, Que., Canada H3A 284.Case report. This 1 1-year-old boy was born after a full term uneventful pregnancy and delivery. Birth weight was 7 Ib. Milestones of his psychomotor development were normal, but according to his mother, he was always a "weak and clumsy child" and his neck and head were always "floppy."At age three and one-half years, the patient was hospitalized with acutely developing vomiting and a major convulsive seizure. Cerebrospinal fluid was normal, as was serum calcium. His blood sugar was reduced initially to 27 mg percent but subsequently was found to be normal on several occasions. He had some abnormal liver function tests; serum glutamic oxaloacetic transaminase (SGOT) 103 units (normal, less than 30) and serum glutamic pyruvic transaminase (SGPT) 125 units (normal, less than 1 5 units), but serum bilirubin was normal. An electroencephalogram (EEG) showed a diffuse, high amplitude dysrhythmia. The cause of the acute encephalopathy and the abnormal liver function tests was not established and the child's clinical status, EEG, and liver function tests returned to normal.The patient started school at age six, but after completing grades 1 and 2 he had difficulties with writing and spelling. Psychometric evaluation reveal...
