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

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• Wilson disease
  30 May 2003

  Wilson’s disease

• 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 (...)

• progressive familial intrahepatic cholestasis type 2
  4 June 2003

  PFIC-2

• progressive familial intrahepatic cholestasis type 3
  4 June 2003

  PFIC-3

• NAIC
  4 June 2003

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

• benign recurrent intrahepatic cholestasis
  4 June 2003

  Etiology:
  Mutations in P-type adenosine triphosphatase

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 110