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

• Niemann-Pick diseases
  16 October 2003

  Niemann-Pick disease, NPDs

• Wilson disease
  30 May 2003

  Wilson’s disease

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• cobalamin deficiency type C
  14 March 2011

  cobalamin C disease; cobalamin deficiency type cblC with homocystinuria (MMACHC)

• 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 (...)

• glycogen storage disease type 9a
  7 May 2010

  GSD9q

• glycogen storage disease type 2
  29 May 2007

  GSD2, Pompe disease, type II glycogenosis, glycogenosis type 2

• Krabbe disease
  4 June 2006

  globoid cell leukodystrophy, GLD, GCL’ globoid cell leukoencephalopathy, galactosylceramide beta-galactosidase deficiency, galactocerebrosidase deficiency, GALC deficiency

• metachromatic leukodystrophies
  4 June 2006

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

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