Results of Lipid Analyses

In the cases of Brown et al., and Norman and Wood, only cholesterol and total phospholipids were analysed in the brain. The cholesterol content was increased almost four-fold while phospholipids were significantly decreased. 

Results of visceral lipid analyses were less abnormal. A low phospholipid content, with normal or slightly increased cholesterol, was reflected in low values for total lipids. 

A ganglioside with identical chromatographic characteristics was found in traces in spleen, liver and white matter of normal brains. The ganglioside Gm2 

The diagnosis of CAFI should be considered when the symptomatology of amaurotic family idiocy develops immediately at birth or during the first weeks thereafter. Biopsies from brain and rectum permit recognition of the histologic abnormalities of amaurotic family idiocy. 

Chromatographic methods will result in the identification of the ganghoside Gd3, if this component is present in increased amounts. The finding of low total brain lipids and phospholipids with normal values for cholesterol and increase of the ester fraction may support the diagnosis. 

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Accurate quantitative results of lipid analyses by MALDI-MS are less than ideal and, thus, little progress has been made toward the direct quantitation of lipids by MALDI-MS, particularly from complex lipid mixtures. 

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