lipid storage diseases
lipidosis, lipidoses
Types
sphingolipidosis
- ceramidosis
- glycosylceramide lipidosis (maladie de Gaucher)
- ceramidase (Farber disease ou Farber lipogranulomatosis)
- glycosphingolipidosis
- Fabry disease
- gangliosidosis type I (GM1)
- gangliosidosis type II (GM2)
- type I (maladie de Tay-Sachs)
- type II (maladie de Sandhoff)
- phosphosphingolipidosis
- sphingomyeline-cholesterol lipidosis (Niemann-Pick disease) (MIM.257200)
- Niemann-Pick type A disease (MIM.257200)
- Niemann-Pick type B disease (MIM.257200)
- Niemann-Pick type C disease (MIM.257220)
- Niemann-Pick type C1 disease (MIM.257220)
- Niemann-Pick type C2 disease - deficiency of HE1 (human epididymis-1) (MIM.601015)
- sphingomyeline-cholesterol lipidosis (Niemann-Pick disease) (MIM.257200)
- Niemann-Pick type D disease
- Niemann-Pick type E disease (MIM.257200)
- alpha-N-acétylgalactosaminidase disease (Schindler disease)
- metachromatic leucodystrophy (sulphatide lipidosis)
- sulfatase mutiple deficiency
- Krabbe disease
- Batten disease
- Wolman disease (lysosomal lipase acide deficiency)
- cholestérol esters storage disease
- fucosidosis
multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type 2)