Ganglioside-Storage Diseases

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Abstract
FIVE ganglioside-storage diseases are now recognized (Table 1). All involve progressive mental and motor deterioration, with onset in childhood and ultimate fatal outcome, autosomal recessive inheritance, neuronal lipidosis secondary to storage of a specific ganglioside, storage of structurally related glycolipids, polysaccharides or glycoproteins, and absence or severe deficiency of specific lysosomal hydrolase enzymes. No treatment is available for these diseases other than palliative therapy. The most effective approach to their control is the detection of heterozygous carriers followed by family planning and the prenatal diagnosis of affected fetuses followed by selective abortion. Major features of each ganglioside-storage disease are listed . . .

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