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

• Wilson disease
  30 May 2003

  Wilson’s disease

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• pipecolic acidemia
  26 March 2010

  Pipecolic acidemia (also called "hyperpipecolic acidemia" or "hyperpipecolatemia") is a very rare metabolic disorder that is caused by a peroxisomal defect.
  It is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.
  It can be associated with Refsum disease.
  See also
  PHYH
  References
  Tranchant C, Aubourg P, Mohr M, Rocchiccioli F, Zaenker C, Warter JM (October 1993). A new peroxisomal disease with impaired phytanic and pipecolic (...)

• hemochromatosis
  21 November 2003

  primary hemochromatoses; hereditary hemochromatosis, HFE, primary hemochromatosis
  Images
  hepatic hemosiderosis in hemochromatosis
  https://twitter.com/PrasFrancis/status/761564741231841280
  Types
  classical primary hemochromatosis (HFE1) (MIM.235200): HFE mutations at 6p21.3 (MIM.235200)
  juvenile hemochromatosis (HFE2s) (MIM.602390)
  HFE2A: HJV mutations (hemojuvelin) (MIM.608274)
  HFE2B: HAMP mutations (hepcidin antimicrobial peptide) (MIM.606464)
  hemochromatosis type 3 (HFE3) (...)

• 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 (...)

• pulmonary Hurler disease
  14 March 2011

  Lung in Hurler disease; lung involvement in Hurler disease, Alpha-L-Iduronidase Deficiency, IDUA Deficiency, MPS I. Includes: Hurler Syndrome (MPS I H), Hurler-Scheie Syndrome (MPS I H/S), Scheie Syndrome (MPS I S)
  Digital case
  Case 202 (HPC:202) : Lung in Hurler disease
  Synopsis
  interstitial pneumonia
  interstitial deposition of mucopolysaccharides
  cholesterol bronchiolitis
  See also
  Hurler disease
  References
  NCBI (...)

• 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

• renal cystinosis
  19 January 2006

  See also
  metabolic diseases genetic metabolic diseases cystinosis

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