Sphingolipidosis
Classification according to ICD-10 | |
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E75 | Disorders of the sphingolipid metabolism and other disorders of lipid storage |
ICD-10 online (WHO version 2019) |
Sphingolipidoses are, except for the X-linked inherited Fabry disease , by autosomal - recessive inherited genes induced metabolic diseases , which are mainly in the central nervous system manifest. They belong to the group of lysosomal storage diseases . By lysosomal enzyme defects or deficits, but also due to defects in the transport or activator proteins, there is a pathological accumulation of intracellular not degradable sphingolipids .
Common symptoms:
- motor and mental retardation
- Enlargement of the liver and kidneys
- often cherry-red macular mark
Metachromatic leukodystrophy and crab leukodystrophy are demyelinating diseases, ie the signal behavior in magnetic resonance imaging is similar to that of other acquired demyelinating diseases, such as B. Multiple sclerosis , acute disseminated encephalomyelitis , balo sclerosis , neuromyelitis optica and progressive multifocal leukoencephalopathy .
In general, these are serious illnesses that are fatal in childhood.
variants
illness | Stored substance | Defective enzyme |
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Niemann-Pick disease | Sphingomyelin | Sphingomyelinase |
Gaucher's disease | Glucocerebroside | β-glucosidase |
Metachromatic Leukodystrophy | Sulfatides | Sulfatidase = aryl sulfatase A |
Fabry disease | Globotriaosylceramide | α-galactosidase |
Tay-Sachs syndrome (amaurotic idiocy, GM2 gangliosidosis ) | Ganglioside GM2 | Hexosaminidase |
Krabbe's disease (globoid cell leukodystrophy) | Galactocerebroside, psychosin | Cerebroside β-galactosidase |