PMID: 696482Jan 1, 1978Paper

Metabolic studies of adrenoleukodystrophy

Advances in Experimental Medicine and Biology
T OginoA B Moser

Abstract

Two series of metabolic studies were prompted by the previous finding that the brain and adrenal tissues of patients with adrenoleukodystrophy, an X-linked genetic disorder, contain unusually long-chain (C22--C32) fatty acids in cholesterol esters and gangliosides. Postmortem brain tissues from three patients were assayed for activities of the three distinct cholesterol ester hydrolases, using [4-14C]cholesterol oleate, lignocerate and cerotate as the substrates. No deficiency of the crude mitochrondrial (pH 4.2), the microsomal (pH 6.0), or the myelin-localized cholesterol ester hydrolases was detected, although the activities of the myelin-localized cholesterol ester hydrolase against cholesteryl lignocerate and cerotate were too low for reliable assays. The activities of the microsomal and myelin-localized hydrolases were actually higher in adrenoleukodystrophy than in controls. Uptake and exclusion by cultured fibroblasts of [1-14C]stearic, [1-14C]lignoceric and [1-14C)cerotic acids were also examined. All fatty acids were avidly taken up by the fibroblasts. Stearic acid was excluded from the cells much more rapidly than lignoceric or cerotic acid. No difference was observed in the uptake and exclusion of fatty acids betwee...Continue Reading

Citations

Jan 1, 1983·Journal of Neurology·H MikiS Tarui
Aug 1, 1983·Journal of Neurochemistry·F R BrownH W Moser
Jan 1, 1980·Folia Psychiatrica Et Neurologica Japonica·T Ogino
Jun 1, 1980·Annals of Neurology·H W MoserY Kishimoto
Jan 1, 1987·Drug Metabolism Reviews·F J Leinweber
Dec 1, 1984·Annals of Neurology·H W MoserB P O'Neill
Jun 1, 1991·Journal of the Neurological Sciences·R KoikeT Miyatake

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Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.