Disease lysosomale

A disease lysosomale is a neurodégénérative Maladie of the child and the adult, in connection with the abnormal operation of one of the Enzyme S contained in the Lysosome.

One counts about fifty diseases lysosomales, whose common point is a genetic deficiency leading to the dysfunction of the lysosome. The lysosomes are Organite S of the Cytoplasme which contain Enzyme S (specifically, Hydrolase S acids) which are charged to assimilate the waste (called metabolites) produced by the cells. This assimilation is the protein work produced by the lysosome. For each disease lysosomales, a defect of a specific gene involves to it not production or the insufficient production of protein in charge of the assimilation of the metabolites.

The metabolites accumulate then, involving the dysfunction of the bodies concerned.

Lipidoses

Glycogénoses

The other diseases lysosomales of the metabolism of glycogen are indexed in the article Genetic disease of the metabolism of the glucids

Céroïdes lipofuscinoses

See also: Céroïdes-lipofuscinoses neuronal

Pycnodysostose

Mucopolysaccharidoses

See also: Mucopolysaccharidose

Oligosaccharidoses and glycoprotéinoses

Oligosaccharidoses

Mucolipidoses

Anomalies of the lysosomal transfer

Others

Consequences of a disease lysosomale

Little by little lesions appear on the level of the bodies lungs, heart, liver, spleen, involving brain of the serious and irreversible disorders. If the consequences are not or not very visible with the birth, the disorders will appear little by little at very different intervals according to the disease, but also according to the patient.

Associations

  • Association '' [[To overcome the Lysosomales Diseases] ]

  • Canadian Company

Sources

  • Orphanet

  • Site on biochemistry
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM.

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