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RSS FeedsDefective degradation enzyme triggers hereditary storage diseases
(PHYSorg.com Medicine & Health)


26 june 2019 15:51:51

Defective degradation enzyme triggers hereditary storage diseases
(PHYSorg.com Medicine & Health)

In rare hereditary storage diseases such as Sandhoff`s disease or Tay-Sachs syndrome, the metabolic waste from accumulating gangliosides cannot be properly disposed of in the nerve cells because important enzymes are missing. The consequences for the patients are grave: They range from movement restrictions to blindness, mental decline and early death. Scientists at the University of Bonn now demonstrate why these gangliosides also accumulate in patients with other storage diseases and cause a deterioration in them. The results will soon be presented in the Journal of Lipid Research and can be read online in advance.

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