Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease.

Abstract:

: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.

journal_name

J Inherit Metab Dis

authors

Gornati R,Berra B,Montorfano G,Martini C,Ciana G,Ferrari P,Romano M,Bembi B

doi

10.1023/a:1015137917508

keywords:

subject

Has Abstract

pub_date

2002-02-01 00:00:00

pages

47-55

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

25

pub_type

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