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NEUROLOGY 1988;38:1107
© 1988 American Academy of Neurology

Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides

S. Di Donato, MD, B. Garavaglia, MS, P. Strisciuglio, MD, C. Borrone, MD and G. Andria, MD

From Lab Bioch Genet (Dr. Di Donato and Ms. Garavaglia), Istituto Neurologico "C. Besta," Milano; Department of Pediatrics (Dr. Strisciuglio), II Facolta di Medic ina, Università di Napoli; Department of Pediatrics (Dr. Borrone), Istituto G. Gaslini, Genova; and Department of Pediatrics (Dr. Andria), Facoltà di Medicina, Università di Reggio, Calabria, Italy.

We studied two unrelated patients with autosomal recessive multisystem triglyceride storage disease. Cultured fibroblasts accumulated 10 times more triglyceride than controls under glycerol or palmitate feeding. Mutant fibroblasts could not degrade accumulated triglycerides of endogenous origin, but normally degraded endogenously synthesized phospholipids. When the cells were fed with exogenous olein, triglyceride catabolism was in the normal range. Oxidation of long-chain, medium-chain, and short-chain fatty acids was normal, and the activities of acidic, neutral, and alkaline lipase in cell extracts were normal. The disease seems to be due to a specific impairment in the degradation of triglycerides synthesized endogenously.

Address correspondence and reprint requests to Dr. Di Donato, Lab Bioch Genet. Istituto Neurologico "C. Besta," via Celoria 11, 20133 Milano, Italy.

Received August 24, 1987. Accepted for publication in final form November 16,1987.

Presented in part at the twenty-fourth annual symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), Amersfoorts, The Netherlands, September, 1986.

Supported in part by research grant CT 86.02020.56 (to S.D.) of the Consiglio Nazionale delle Ricerche and a grant (G.A.) from "Progetto finalizzato ingegneria genetica e basi molecolari delle malattie ereditarie," Consiglio Nazionale delle Ricerche, Rome, Italy.




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