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 (...)

• Leigh syndrome
  28 May 2003

  Leigh’s syndrome

• multiple acyl-CoA dehydrogenation deficiency
  18 March 2005

  MADD, glutaric aciduria type 2

• congenital bile adid synthesis defect type 1
  27 May 2009

  CBAS1, congenital bile adid synthesis disease type 1

• congenital bile adid synthesis defect type 2
  27 May 2009

  CBAS2

• urea cycle diseases
  19 April 2004

  urea-cycle disorders, urea cycle disorder, disorders of the urea cycle, anomalies of urea cycle

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