[Sphingolipid storage diseases of the central nervous system: bases of biochemical and clinical heterogeneity].
Lysosomal storage disorders are progredient and often fatal diseases most of which result from a pronounced enzyme deficiency. In the case of sphingolipidoses, usually enzymes of sphingolipid catabolism are missing, or only a few percent of normal activity are detectable. For many sphingolipidoses, damage of the central nervous system is characteristic, but neurological and other symptoms can vary greatly, especially in adult variants. This variability is mainly caused by different allelic mutations of the structural genes, resulting in different levels of residual enzyme activity.
D002493:Central Nervous System Diseases / Q000209:etiology / Q000378:metabolism*; D006801:Humans; D008247:Lysosomes / Q000378:metabolism; D013106:Sphingolipidoses / Q000378:metabolism*; D013107:Sphingolipids / Q000378:metabolism*
D013107:Sphingolipids
Zentralnervöse Sphingolipid-Speicherkrankheiten: Grundlagen ihrer biochemischen und klinischen Heterogenität.