Hanyang Med Rev.  2005 Aug;25(3):19-26.

Sphingolipidoses

• Yoo HW

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, ophthalmologic examination, etc., a provisional diagnosis 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) and disorders with central and peripheral demyelination (metachromic leukodystrophy and Krabbe disease). Farber disease and Fabry disease are unique in themselves. The last decade has seen hopeful progress in therapeutic strategies, especially for Gaucher disease. Therefore, emphasis of this review has been placed on these new developments.

Keyword

Fabry disease; Farber disease; Gaucher disease; GM1 gangliosidosis; GM2 gangliosidosis; Krabbe disease; Metachromic leukodystrophy; Niemann-Pick disease; Sphingolipid

MeSH Terms

Demyelinating Diseases
Diagnosis
Fabry Disease
Farber Lipogranulomatosis
Gangliosidoses, GM2
Gangliosidosis, GM1
Gaucher Disease
Hope
Leukodystrophy, Globoid Cell
Magnetic Resonance Imaging
Mass Screening
Neurophysiology
Niemann-Pick Diseases
Sphingolipidoses*