Highlights the biochemical basis of neurovisceral storage diseases in childhood as enzymatic defects causing metabolite accumulation.
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May inform enzymatic testing in suspected pediatric storage diseases; leaves open prospective validation of EM correlates.
The majority of diseases in which there is central nervous system dysfunction, secondary to catabolic abnormalities (neuronal "storage" diseases), have been shown to result from enzymatic defects that lead to the intracellular accumulation of one or more of the following metabolites: sphingomyelin, gangliosides, cerebrosides and cerebroside-sulfuric acid esters (sulfatides).
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García et al. (1970) studied this question.
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