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

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• Wilson disease
  30 May 2003

  Wilson’s disease

• Tay-Sachs disease
  18 June 2005

  Tay-Sachs disease, the most common form of GM2 gangliosidosis, results from mutations that affect the α-subunit locus on chromosome 15 and cause a severe deficiency of hexosaminidase A. This disease is especially prevalent among Jews, particularly among those of Eastern European (Ashkenazic) origin, in whom a carrier rate of 1 in 30 has been reported.
  Etiology
  Tay-Sachs disease is caused by mutation in the alpha subunit of the hexosaminidase A gene (HEXA) (MIM.606869)
  Tay-Sachs Disease (...)

• 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 (...)

• Krabbe disease
  4 June 2006

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

• NAIC
  4 June 2003

  CIRH1A, north american indian childhood cirrhosis, north amerindian childhood cirrhosis

• Leigh syndrome
  28 May 2003

  Leigh’s syndrome

• GLUT1 deficiency
  9 June 2003

  Synopsis
  intractable seizures in infancy
  acquired microcephaly
  developmental delay
  low glucose sugar levels in the cerebrospinal fluid, but not in the blood
  dominant transmission¸
  Etiology
  mutation in the GLUT1 gene
  Patients with this syndrome can have heterozygous mutations, with one allele being a normal wild type and one being mutant.
  An efficient transport of glucose across the blood-brain barrier is essential as it is such an important fuel for the brain, and this is (...)

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