Les maladies lysosomales sont des maladies génétiques dues au défaut du catabolisme de certaines molécules complexes au sein du lysosome. Les progrès. Morocco. Association Espoir Vaincre les Maladies Lysosomales au Maroc City: RABAT Phone: + L’association Espoir VML Maroc a été créée. Les maladies lysosomales (ML) constituent un groupe hétérogène de désordres métaboliques génétiques. Le déficit enzymatique résultant entraîne une.
The lysosomal lyysosomales disorders LSD comprise a heterogeneous group of inborn errors of metabolism. The resulting enzymatic defect leads to accumulation of its substrate in the lysosome. Their clinical patterns reflect the site of substrate storage. Central nervous system involvement is often present in the younger patients affected by the most severe phenotypes.
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Substantial progress has been made in the pathophysiological knowledge, leading to new therapeutic options in LSD. This treatment reduces lysosomal storage, and sometimes oysosomales, but most often limits the progression of visceral involvement and of its clinical consequences.
However, ERT does not cross the blood-brain barrier and is ineffective on neurological symptoms. In the younger patients with MPS I Hurler disease and with selected cases of other LSD, haematopoietic stem cell transplantation remains the optimal option.
Other strategies using small molecules are being explored in order lea cross the blood-brain barrier.
Vaincre les maladies lysosomales
This includes substrate reduction or depletion therapies, which decrease the amount of substrate, and the use of pharmacological chaperones, which enhance the residual activity of the lysosomale enzyme. Miglustat is the proposed substrate reduction therapy in Niemann-Pick C disease and clinical trials are actually performed in several LSD using other substrate reduction or chaperone drugs.
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