Diagnosis of adrenoleukodystrophy using dried blood spots.
We have demonstrated the increased C26:0/C22:0 ratio in the fatty acids of sphingolipid fraction in dried blood spots on filter paper from the patient with adrenoleukodystrophy. The ratio of C26:0/C22:0 in the dried blood spots from the patient was 2.1-fold higher than those of the normal controls. This value was almost the same as the ratio in erythrocyte membrane sphingomyelin from the patient, because sphingolipid fraction in the dried blood spots consists of mainly the sphingomyelin from erythrocyte membranes. Blood samples are easy to obtain by mail and the method is useful in the diagnosis of the patient and screening for the families known to be at risk.
D000326:Adrenoleukodystrophy / Q000097:blood / Q000175:diagnosis*; D002849:Chromatography, Gas; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D005227:Fatty Acids / Q000097:blood*; D005374:Filtration / Q000295:instrumentation; D006801:Humans; D013107:Sphingolipids / Q000097:blood*
D005227:Fatty Acids; D013107:Sphingolipids