Metabolic disease

Articles

• Smith-Lemli-Opitz syndrome
  25 November 2003

  SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome

• metachromatic leukodystrophies
  4 June 2006

  arysulfatase A deficiency, ARSA deficiency, cerebroside sulfatase deficiency, sulfatide lipidosis, MLD, metachromatic leukodystrophy, sulfatase deficiency

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• plasmalogens biosynthesis
  9 June 2003

  Pathology:
  anomalies of plasmalogens biosynthesis (plasmalogens deficeincy)

• Niemann-Pick diseases
  16 October 2003

  Niemann-Pick disease, NPDs

• Wilson disease
  30 May 2003

  Wilson’s disease

• Zellweger disease
  17 March 2005

  Zellweger syndrome

• Gaucher disease
  1 October 2003

  Definition: Gaucher disease refers to a cluster of autosomal recessive disorders resulting from mutations in the gene encoding glucocerebrosidase. Acid beta-glucocerebrosidase, also known as beta-glucosidase (GBA) (EC 3.2.1.45), is a lysosomal enzyme that catalyzes the breakdown of the glycolipid glucosylceramide to ceramide and glucose.
  This disease is the most common lysosomal storage disorder. The affected gene encodes glucocerebrosidase, an enzyme that normally cleaves the glucose (...)

• progressive familial intrahepatic cholestasis type 3
  4 June 2003

  PFIC-3

• mucolipidosis type IV
  12 November 2003

  Mucolipidosis type IV (ML-IV) is an autosomal recessive lysosomal storage disease that causes severe neurologic abnormalities.
  Synopsis
  brain : pigmented cytoplasmic granules in neurons and accumulation of lamellated membrane structures in lysosomes
  stomach: cytoplasmic vacuolization of parietal cells
  Ultrastructure
  lysosomal inclusions in gastric parietal cells
  Animals models
  Mouse: #17924347#
  Reviews
  Slaugenhaupt SA. The molecular basis of mucolipidosis type IV. Curr Mol (...)

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