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. 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.

journal_name

Neurology

journal_title

Neurology

authors

Di Donato S,Garavaglia B,Strisciuglio P,Borrone C,Andria G

doi

10.1212/wnl.38.7.1107

subject

Has Abstract

pub_date

1988-07-01 00:00:00

pages

1107-10

issue

7

eissn

0028-3878

issn

1526-632X

journal_volume

38

pub_type

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