Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > lipid storage diseases

lipid storage diseases

Thursday 24 March 2005

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)
      • Niemann-Pick type D disease
      • Niemann-Pick type E disease (MIM.257200)
  • alpha-N-acĂ©tylgalactosaminidase disease (Schindler disease)
  • metachromatic leucodystrophy (sulphatide lipidosis)
  • sulfatase mutiple deficiency
  • Krabbe disease
  • Batten disease
  • Wolman disease (lysosomal lipase acide deficiency)
  • cholestĂ©rol esters storage disease
  • fucosidosis

- multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type 2)