Sphingolipidoses are a subgroup of lysosomal storage disorders in which sphingolipids accumulate in one or several organs as the result of a primary deficiency in enzymes or activator proteins involved in their degradative pathway. Traditionally, this subgroup also includes Niemann-Pick C disease, which is characterised by impaired cellular trafficking of lipids. These diseases may have visceral, neurovisceral or purely neurological manifestations. The neuronal ceroid-lipofuscinoses (NCLs) constitute another group of lysosomal disorders, with accumulation of autofluorescent ceroid lipopigments and a severe neurodegenerative course including retinopathy, epilepsy, motor abnormalities and dementia. Except for Fabry disease (X-linked recessive), the mode of inheritance is autosomal recessive. The clinical presentation and course of the classic forms are often typical.
CITATION STYLE
Vanier, M. T., & Caillaud, C. (2012). Disorders of sphingolipid metabolism and neuronal ceroid-lipofuscinoses. In Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 555–577). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_40
Mendeley helps you to discover research relevant for your work.