| Sphingolipidoses | |
| Classification and external resources | |
| ICD-10 | E75.3 |
|---|---|
| ICD-9 | 272.7 |
| DiseasesDB | 33438 |
| eMedicine | / |
| MeSH | [1] |
Sphingolipidoses are a class of disorders relating to Sphingolipid metabolism.
Contents |
Accumulated products
- Gangliosides: Gangliosidosis
- Glycolipids
Fabry's disease - Krabbe disease
- Metachromatic leukodystrophy
- Glucocerebrosides
Overview
| Disease | Deficient enzyme | Accumulated products | Symptoms | Inheritance |
|---|---|---|---|---|
| Niemann-Pick disease | Sphingomyelinase | Sphingomyelin in brain and RBCs |
|
Autosomal recessive |
| α-galactosidase A | Glycolipids in brain, heart, kidney |
|
||
| Krabbe disease | β-galactosidase | Glycolipids in oligodendrocytes |
|
Autosomal recessive |
| Gaucher disease | Glucocerebrosidase | Glucocerebrosides in RBCs, liver and spleen |
|
Autosomal recessive, prevalent in Ashkenazi Jews |
| Tay-Sachs disease | Hexosaminidase A | GM2 gangliosides in neurons |
|
Autosomal recessive, prevalent in Ashkenazi Jews |
| Metachromatic leukodystrophy | Arylsulfatase A | Sulfatide compounds in neural tissue | Demyelinisation in CNS and PNS:
|
Autosomal recessive[2] |
See also
References
- ^ If there is no other reference mark in box, then reference is: Marks, Dawn B.; Swanson, Todd; Sandra I Kim; Marc Glucksman (2007). Biochemistry and molecular biology. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. ISBN 0-7817-8624-X.
- ^ Not from Marks et al.
External links
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