Adrenoleukodystrophy. Accumulation of cholesterol esters with very long chain fatty acids.
An accumulation of fatty acids having chain lengths of C22 to C26 was demonstrated in the cholesterol ester fraction of white matter from two boys with adrenoleukodystrophy. A similar accumulation of very long chain fatty acids was also shown in gangliosides and cerebrosides. A disorder of the one-carbon degradation system responsible for the metabolism of some of the very long chain fatty acids may be the basic enzymatic defect in this condition.
D000307:Adrenal Gland Diseases / Q000378:metabolism*; D001921:Brain / Q000378:metabolism*; D001923:Brain Chemistry; D001927:Brain Diseases / Q000378:metabolism*; D002648:Child; D002788:Cholesterol Esters / Q000032:analysis / Q000378:metabolism*; D005227:Fatty Acids / Q000378:metabolism*; D005732:Gangliosides / Q000032:analysis; D006801:Humans; D008297:Male
D002788:Cholesterol Esters; D005227:Fatty Acids; D005732:Gangliosides