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

• Wilson disease
  30 May 2003

  Wilson’s disease

• Niemann-Pick diseases
  16 October 2003

  Niemann-Pick disease, NPDs

• 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 (...)

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• progressive familial intrahepatic cholestasis type 3
  21 November 2011

  PFIC3, MDR3 deficiency

• hyperinsulinism-hyperammonemia syndrome
  24 April 2004

  HI/HA, HI-HA, GDH-associated hyperinsulinism

• exercise-induced hypoglycemia
  22 October 2007

  Exercise-induced hyperinsulinism (EIHI) is a dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load.
  See also
  beta -cell regulation
  Etiology
  promoter-activating mutations in SLC16A1 (monocarboxylate transporter 1)
  increasing expression of SLC16A1 in beta cells
  permitting pyruvate uptake and pyruvate-stimulated insulin release despite ensuing hypoglycemia
  The SLC16A1 gene encodes the (...)

• hepatic storage diseases
  15 June 2004

  Digital cases
  Case 247 : glycogen storage disease type 3 - GSD3
  Types
  mucopolysaccharidoses
  mannosidosis/fucosidosis
  sialidosis
  mucolipidosis
  GM1 general gangliosidosis
  cystinosis
  metachromatic leukodystrophy
  Farber disease
  glycogen storage diseases glycogen storage disease type 1 (GSD1) glycogen storage disease type 2 (GSD2) glycogen storage disease type 3 (GSD3) glycogen storage disease type 4 (GSD4)
  hepatic lysosomal storage diseases Wolman disease Gaucher (...)

• 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) (...)

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