Neurochemical findings in adreno-leukodystrophy.
The results of neurochemical examination of brain tissue derived from 2 cases of adreno-leukodystrophy have been presented. Both white and grey matter contained suadanophilic material. Although free fatty acid was also present, cholesteryl ester accounted for the bulk of the sudanophilic material. Total cholesterol, galactolipid and phospholipid content was reduced in both white and grey matter. The lipid loss was particularly severe from white matter indicative of considerable demyelination. Cholesterol was found to be the only major sterol present in white or grey matter. Subcellular fractionation of the diseased white matter resulted in myelin and two related fractions, one of which was very fatty and was rich in steryl ester. Morphological examination of myelin indicated loosely-packed lamellae. All of 3 fractions had adenosine 2',6'-cyclic nucleotide-3'-phosphohydrolase activity. Myein and the fraction not rich in cholesteryl ester had discernable basic protein bands when examined by polyacrylamide gel electrophoresis. Analysis of the fatty acid composition of choline and ethanolamine glycerophospholipids indicated a general increase of saturated fatty acids, relative to control values and a decrease in long-chain fatty acids. Examination of sphingomyelin fatty acids also demonstrated a loss of long-chain fatty acids. The fatty acid composition of the cholesteryl esters from white and grey matter differed. The findings indicate generalized damage to the brain, both of white and grey matter, with the damage to the white matter being much more severe. No abnormal sterol or other lipid was isolated.
D000309:Adrenal Insufficiency / Q000150:complications / Q000378:metabolism* / Q000473:pathology*; D001923:Brain Chemistry; D001929:Brain Edema / Q000473:pathology; D002648:Child; D002784:Cholesterol / Q000032:analysis; D002788:Cholesterol Esters / Q000032:analysis; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications / Q000378:metabolism* / Q000473:pathology; D005227:Fatty Acids / Q000032:analysis; D006017:Glycolipids / Q000032:analysis; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000032:analysis; D009186:Myelin Sheath / Q000032:analysis / Q000201:enzymology; D010713:Phosphatidylcholines / Q000032:analysis; D010714:Phosphatidylethanolamines / Q000032:analysis; D010744:Phosphoric Monoester Hydrolases / Q000032:analysis; D013577:Syndrome
D002788:Cholesterol Esters; D005227:Fatty Acids; D006017:Glycolipids; D009185:Myelin Proteins; D010713:Phosphatidylcholines; D010714:Phosphatidylethanolamines; D002784:Cholesterol; D010744:Phosphoric Monoester Hydrolases