Glycosphingolipid disorders of the brain.

[gm1 gangliosidosis]

Glycosphingolipids , comprising a ceramide lipid backbone linked to one /more saccharides , are particularly abundant on the outer leaflet of the eukaryotic plasma membrane and play a role in a wide variety of essential cellular processes . Biosynthesis and subsequently degradation of these lipids is tightly regulated via the involvement of numerous enzymes , and failure of an enzyme to participate in the metabolism results in storage of the enzyme 's substrate , giving rise to a lysosomal storage disease . The characteristics , severity and onset of the disease are dependent on the enzyme deficient and the residual activity . Most lysosomal storage disorders found thus far are caused by a defect in the catabolic activity of a hydrolase , causing progressive accumulation of its substrate , predominantly in the lysosome . Storage of gangliosides , sialic acid containing glycosphingolipids , mostly found in the central nervous system , is a hallmark of neuronopathic forms of the disease , that include GM 1 and GM 2 gangliosidoses , Gaucher type II and III and Niemann-Pick C . Models for these diseases have provided valuable insight into the disease pathology and potential treatment methods .Treatment of these rare but severe disorders proves challenging due to restricted access of therapeutics through the blood -brain barrier . However , recent advances in enzyme replacement , bone marrow transplantation , gene transfer , substrate reduction and chaperon-mediated therapy provide great potential in treating these devastating disorders .

Diseases
Validation

Diseases presenting "severe disorders" symptom

gm1 gangliosidosis

neonatal adrenoleukodystrophy

phenylketonuria

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