Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred.
Varying combination of central and peripheral nervous system disease and Addison disease were previously described in 14 members of a family. The diagnosis of adrenoleukodystrophy (ALD) was documented in affected individuals by increased content of C26:0 C26/C22 fatty acid ratios were not proportional to the neurologic syndrome, severity of disease, or duration.
D000224:Addison Disease / Q000235:genetics / Q000378:metabolism; D000307:Adrenal Gland Diseases / Q000235:genetics / Q000378:metabolism*; D002493:Central Nervous System Diseases / Q000235:genetics / Q000378:metabolism*; D002875:Chromosomes; D003711:Demyelinating Diseases / Q000235:genetics / Q000378:metabolism*; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000378:metabolism*; D012867:Skin
D005227:Fatty Acids