Rare Diseases Symptoms Automatic Extraction

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 GM1 and GM2 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 presenting "central nervous system" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • alexander disease
  • aniridia
  • aromatase deficiency
  • canavan disease
  • child syndrome
  • classical phenylketonuria
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cystinuria
  • dracunculiasis
  • erdheim-chester disease
  • fabry disease
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • legionellosis
  • liposarcoma
  • malignant atrophic papulosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • phenylketonuria
  • proteus syndrome
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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