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 disease type 4
  25 April 2004

  GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4

• 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 (...)

• 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 (...)

• Krabbe disease
  4 June 2006

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

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• urea cycle diseases
  19 April 2004

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

• diabetic embryopathy
  5 April 2004

  Synopsis
  caudal regression syndrome and sirenomelia
  holoprosencephaly
  References
  Eriksson UJ, Borg LA, Cederberg J, Nordstrand H, Siman CM, Wentzel C, Wentzel P. Pathogenesis of diabetes-induced congenital malformations. Ups J Med Sci. 2000;105(2):53-84. PMID: #11095105#
  Kousseff BG. Diabetic embryopathy. Curr Opin Pediatr. 1999 Aug;11(4):348-52. PMID: #10439209#
  Reece EA, Homko CJ, Wu YK, Wiznitzer A. The role of free radicals and membrane lipids in diabetes-induced congenital (...)

• alpha-mannosidosis
  29 July 2008

  Alpha-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal alpha-mannosidase activity. The disorder shows a wide range of clinical phenotypes, from a severe infantile form (type I), which is fatal at less than 3 to 8 years of age, to a less severe juvenile- or adult-onset form (type II), which ultimately shows progressive neurologic degeneration. - Wide phenotypic variability. Alpha-mannosidosis is caused by mutation (...)

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