Glycolipid Analysis of Different Tissues and Cerebrospinal Fluid in Type II Gaucher Disease

• Published in: Journal of inherited metabolic disease Vol. 25; no. 1; pp. 47 - 55
• Main Authors: Gornati, R., Berra, B., Montorfano, G., Martini, C., Ciana, G., Ferrari, P., Romano, M., Bembi, B.
• Format: Journal Article
• Language: English
• Published: Dordrecht Kluwer Academic Publishers 01.02.2002; Springer; Blackwell Publishing Ltd
• Subjects: Biological and medical sciences; Brain - pathology; Brain Chemistry; Cerebellum - chemistry; Cerebellum - pathology; Errors of metabolism; Female; G(M1) Ganglioside - analysis; G(M1) Ganglioside - cerebrospinal fluid; Gangliosides - analysis; Gangliosides - cerebrospinal fluid; Gaucher Disease - cerebrospinal fluid; Gaucher Disease - pathology; Gaucher Disease - physiopathology; Glucosylceramides - analysis; Glucosylceramides - cerebrospinal fluid; Glycolipids - analysis; Glycolipids - cerebrospinal fluid; Humans; Infant; Lactosylceramides - analysis; Lactosylceramides - cerebrospinal fluid; Lipids (lysosomal enzyme disorders, storage diseases); Liver - chemistry; Liver - pathology; Medical sciences; Metabolic diseases; Spleen - chemistry; Spleen - pathology; Human; Spleen; Nervous system diseases; Biochemical analysis; Pathophysiology; Liver; Metabolic diseases; Infant; Concentration; Cerebrospinal fluid; Enzymopathy; Cerebral disorder; Genetic disease; Glycolipid; Tissue; Gaucher disease; Ganglioside; Autopsy; Central nervous system disease; Lipoidosis; Brain (vertebrata); Organ
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1023/A:1015137917508

The lipid composition or the liver, spleen, brain, cerebellum and cerebrospinal fluid of a Gaucher disease type II patient who died at the age of 5 months was examined. The glycolipid analysis demonstrated a marked increase of total amounts not only in the peripheral tissues but also in the brain cerebellum and cerebrospinal fluid, with a prevalence of glucosylceramide. A reduction in gangliosides was observed in all the analysed tissues with a relative increase of GD3 in the nervous tissue. The fatty acid composition of glucosylceramide showed a prevalence of stearic acid in the central nervous system, while in the peripheral tissues palmitic acid was prevalent. This result suggests a different origin of the glucosylceramide stored in different tissues. The generalized reduction of gangliosides and their modified distribution together with the central nervous system GD3 increment represent a new observation. These data could be useful in the effort to clarify the pathophysiological mechanism of brain damage in neuronopathic Gaucher disease.