Metabolic disease

Articles

• 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

• multiple sulfatase deficiency
  26 November 2007

  MSD, mucosulfatidosis, juvenile sulfatidosis Austin type

• Byler disease
  4 June 2003

  PFIC-1

• progressive familial intrahepatic cholestasis type 2
  4 June 2003

  PFIC-2

• Krabbe disease
  4 June 2006

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

• X-linked dominant chondrodysplasia punctata type 2
  30 May 2007

  CDPX2, Conradi-Hunnermann syndrome, Happle syndrome

• fucosidosis
  29 July 2008

  Definition: Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues.
  Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal (...)

• Bartter syndrome
  18 March 2005

  Types
  Bartter syndrome type 1 (MIM.601678): loss-of-function mutations in the butmetanide-sensitive sodium-potassium-chloride cotransporter-2 gene (SLC12A1) (MIM.600839)
  Bartter syndrome type 2 (MIM.241200): loss-of-function mutation in the potassium channel ROMK1 gene (KCNJ1) (MIM.600359)
  Bartter syndrome type 3 (classic Bartter syndrome) (MIM.607364): mutation in the kidney chloride channel B gene (CLCNKB) (MIM.602023)
  Bartter syndrome type 4 (infantile Bartter syndrome with (...)

• CHILD syndrome
  12 December 2006

  CHILD syndrome associates congenital hemidysplasia with ichthyosiform nevus and limb defects (MIM.308050). It is an X-linked dominant trait with lethality for male embryos.
  A symmetric distribution of this nevus can exceptionally be seen in patients with CHILD syndrome.
  The disorder is caused by mutations in NSDHL (MIM.300275), a gene playing an important role in the cholesterol biosynthetic pathway.
  CHILD syndrome is due to loss of function of an enzyme involved in cholesterol (...)

• carnitine palmitoyltransferase deficiency type 2
  18 March 2005

  CPT2

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