dolichols and Mucopolysaccharidoses

The contents of total dolichol were measured in the cerebral cortex of various patients with lysosomal storage disorders, including mucopolysaccharidosis. Strikingly high levels of dolichol were demonstrated in GM1-gangliosides, Sanfilippo B syndrome, and a severe type of Hunter syndrome as well as neuronal ceroid-lipofuscinosis. An increased level of dolichol in cerebral cortex in neuronal ceroid-lipofuscinosis (NCL) was once regarded as pathognomonic for NCL. Our data, however, suggest that an increased level of dolichol in cerebral cortex is a nonspecific phenomenon related to some lysosomal dysfunction secondary to various neurodegenerative disorders.

Topics: Adolescent; Adult; Aging; Brain Chemistry; Cerebral Cortex; Child; Child, Preschool; Dolichols; Female; Humans; Infant; Infant, Newborn; Lysosomal Storage Diseases; Mucopolysaccharidoses; Pregnancy

Nonesterified dolichols have been measured in the urinary sediment of 20 patients with the late infantile and juvenile forms of neuronal ceroid lipofuscinosis (Batten disease), in 15 patients with other storage and neurodegenerative disorders and in 10 control subjects. Dolichols were measured by a high performance liquid chromatographic method and were related to urinary creatinine concentration. The levels of dolichols in Batten disease were not significantly elevated when compared to the normal subjects or to patients with other neurodegenerative disorders. The highest levels seen were in two patients with mucopolysaccharidosis types II and IV, respectively. Measurement of dolichols in urinary sediment is of little value in the diagnosis of Batten disease or in furthering our understanding of the underlying primary defect.

Topics: Adolescent; Adult; Child; Creatinine; Diterpenes; Dolichols; Humans; Mucopolysaccharidoses; Nervous System Diseases; Neuronal Ceroid-Lipofuscinoses