Multisystem neuronal degeneration, hepatosplenomegaly, and adrenocortical deficiency associated with reduced tissue arachidonic acid
- 1 August 1981
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 31 (8) , 925
- https://doi.org/10.1212/wnl.31.8.925
Abstract
Two brothers with a previously unrecognized syndrome characterized by failure to thrive, visual loss resulting from retinitis pigmentosa, sensorineural hearing loss, mental retardation, distal progressive muscular atrophy, hepatosplenomegaly and adrenocortical deficiency were studied. Biopsied tissue showed a consistent reduction of arachidonic acid and other polyunsaturated fatty acids, but not of linoleic acid. Deranged metabolism and specifically a deficiency of polyunsaturated fatty acids, including arachidonic acid, may be involved.This publication has 16 references indexed in Scilit:
- AdrenomyeloneuropathyNeurology, 1977
- AdrenoleukodystrophyNeurology, 1977
- In vitro cholesterol esterification in human serum.Clinical Chemistry, 1977
- Neurochemical findings in adreno-leukodystrophyJournal of the Neurological Sciences, 1976
- Lipid abnormalities in hereditary neuropathyJournal of the Neurological Sciences, 1976
- Qualitative alteration in substrate specificity of mitochondrial monoamine oxidase in brainJournal of Neurochemistry, 1976
- Plasma phospholipids and their fatty acid composition in multiple sclerosisJournal of Neurology, Neurosurgery & Psychiatry, 1966
- The effect of medium chain triglyceride upon fat absorption and plasma lipid and depot fat of children with cystic fibrosis of the pancreas.Journal of Clinical Investigation, 1965
- Generalized GangliosidosisAmerican Journal of Diseases of Children, 1965
- Serum fatty acids in multiple sclerosisJournal of Neurology, Neurosurgery & Psychiatry, 1964