Presence of abnormal amounts of dolichols in the urinary sediment of Batten disease patients.

Abstract

Summary: Polyisoprenols of the dolichol class have been identified in urinary sediment for the first time and quantified by a high performance liquid chromatographic method. In the late infantile and juvenile forms of Neuronal Ceroid Lipofuscinosis (Batten disease), greatly increased amounts of dolichols of C-90 to C-105 were found in the urinary sediment compared with a variety of other neurologic disorders and age-matched normal subjects. Dolichols purified from the urinary sediment of a late infantile Batten disease patient were shown to have spectroscopic and chemical properties identical to standard preparations of liver and brain dolichols. Speculation: Measurement of dolichols in the urinary sediment could be of value in diagnosis and screening of siblings of Batten disease. The discovery that dolichols are present in the storage cytosomes, are increased in both the brain and dehisced renal tubular cells in the urine suggests that the basic biochemical defect in these inherited disorders lies on pathways involved in the utilization of dolichols for glycoprotein synthesis.