Metabolic disease

Articles

• Niemann-Pick diseases
  16 October 2003

  Niemann-Pick disease, NPDs

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• 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 (...)

• multiple acyl-CoA dehydrogenation deficiency
  18 March 2005

  MADD, glutaric aciduria type 2

• gout
  23 August 2004

  Digital slides
  UI:859 - Interphalangeal joint of toe - Gout tophus
  Gouty Tophi in Sesamoid Bone of Foot by Ed Euthman.
  Digital slides
  UI:859 - Interphalangeal joint of toe - Gout tophus.
  Images
  Gouty Tophi in Sesamoid Bone of Foot by Ed Euthman.
  Deposits of destroyed uric acid crystals seen as amorphus eosinophilic material
  https://twitter.com/Valdebran/status/748320406440800257
  https://twitter.com/RyanHickMD/status/722120072072794112 (...)

• 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

• carnitine palmitoyltransferase deficiency type 2
  18 March 2005

  CPT2

• 17-hydroxylase deficiency
  26 May 2009

  Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene for the enzyme CYP17A1.
  17-alpha hydroxylase deficiency causes 1% of congenital adrenal hyperplasia.
  All patients have female external genitalia due to increased deoxycorticosterone and arterial hypertension.
  It produces decreased synthesis of both cortisol and sex steroids, with resulting increase in mineralocorticoid production. (...)

• Leigh syndrome
  28 May 2003

  Leigh’s syndrome

• 3-hydroxysteroid dehydrogenase deficiency
  25 May 2009

  3β-Hydroxysteroid dehydrogenase

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