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

Abstract

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… (More)

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