Metabolic disease

Articles

• NAIC
  4 June 2003

  CIRH1A, north american indian childhood cirrhosis, north amerindian childhood cirrhosis

• Hurler disease
  23 October 2009

  MPS1, mucopolysaccharidosis type I, mucopolysaccharidosis type 1

• congenital bile adid synthesis defect type 2
  27 May 2009

  CBAS2

• renal cystinosis
  19 January 2006

  See also
  metabolic diseases genetic metabolic diseases cystinosis

• 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) (...)

• methylmalonic acidurias
  31 July 2008

  methylmalonic acidemia, methylmalonic aciduria

• 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 (...)

• 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. (...)

• 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 (...)

• GM1 gangliosidosis
  29 April 2016

  Images
  Suspected skeletal dysplasia with pulmonary hypoplasia @ 37gw. Small placenta (304g) : GM1 gangliosidosis https://twitter.com/sranna86/status/899780925445165056 Placental metabolic dysfunction due to GM1 gangliosidosis Placental shows vacuolisation of syncytiotrophoblast, intermediate trophoblast, and stromal Hofbauer cells. AR lysosomal storage disease characterised by def of acid beta-galactosidase resulting in accumulation of gangliosides and MPS in tissues.
  GM1 (...)

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