Abnormal excretion of autofluorescent lipids in urine from patients with neuronal ceroid lipofuscinosis.

Two of our 5 patients with neuronal ceroid lipofuscinosis excreted a large amount of autofluorescent lipids in their urine. These autofluorescent lipids consisted of more than 5 bands in the thin-layer-chromatography. Excitation and emission spectra of these lipids showed that they had heterogeneous components. This finding was specific to neuronal ceroid lipofuscinosis, and never found in other neurological diseases. We also measured unesterified dolichol and dolichol fatty acid ester in urine, and 4 of our patients did not excrete a large amount of such compounds compared with control groups. This finding suggest that increased excretion of dolichol in urine of patient with neuronal ceroid lipofuscinosis may be the secondary effect, but there are some possibilities that certain abnormalities in glycoprotein metabolism exist in neuronal ceroid lipofuscinosis.