Disorders of Sphingolipid Metabolism

Abstract

Sphingolipidoses are a subgroup of lysosomal storage disorders. They are characterized by relentless progressive storage in affected organs and concomitant functional impairments. No overall screening procedure for these disorders is available. Their course and appearance, however, are usually characteristic and, together with relevant technical procedures, such as magnetic resonance imaging (MRI), clinical neurophysiology, ophthalmoscopic examination, etc., a provisional diagnosis (“educated guess”) can be made, after which enzymatic diagnosis can close the gap in the diagnostic process. Subgroups of sphingolipidoses are grouped together, such as: disorders with prominent hepatosplenomegaly (Niemann-Pick A, B and Gaucher disease), disorders with central and peripheral demyelination [metachromatic leukodystrophy (MLD) and Krabbe disease], and disorders with prominent neuronal storage (the gangliosidoses). Farber disease and Fabry disease are unique in themselves. Fundamentally different etiologies separate Niemann-Pick types C and D from types A and B. For traditional reasons, they are still grouped together in this edition. The last decade has seen hopeful progress in therapeutic strategies, especially for Gaucher disease. Therefore, emphasis has been placed on these new developments.