Metabolic disease

Articles

• 3-hydroxyisobutyrate aciduria
  11 May 2005

  Autosomal recessive metabolic disease.
  Synopsis
  organic acidemia
  episodic ketoacidosis
  lacticacidemia
  failure to thrive
  dysmorphic facies
  microcephaly
  migrational brain disorder
  congenital intracerebral calcification
  Laboratory
  3-hydroxyisobutyric aciduria
  Low free carnitine
  High esterified carnitine
  3-hydroxyisobutyrate dehydrogenase deficiency

• 3-hydroxysteroid dehydrogenase deficiency
  25 May 2009

  3β-Hydroxysteroid dehydrogenase

• 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 (...)

• Friedreich ataxia
  21 November 2003

  Friedreich ataxia is a degenerative disorder characterized by a progressive cerebellar ataxia with a lack of deep-tendon reflexes, a pyramidal weakness and dysarthria. Increased heart wall thickness is observed in all patients, and 70% of the patients actually develop a life-threatening hypertrophic cardiomyopathy.
  Moreover, 10% of the patients also presented with diabetes mellitus and 20% of the patients had carbohydrate intolerance. Friedreich’s ataxia is a common autosomal recessive (...)

• MELAS
  21 November 2003

  Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke like symptoms, MELAS syndrome

• HNF4A-associated hyperinsulinism
  25 January 2010

  HNF4A-associated congenital hyperinsulinism; HNF4A-CHI

• ABCC8-associated hyperinsulinism
  25 January 2010

  Potassium channels in the plasma membrane of the pancreatic beta cells are critical in maintaining glucose homeostasis by responding to ATP and coupling metabolic changes to insulin secretion. These channels consist of subunits denoted the sulfonylurea receptor SUR1 and the inwardly rectifying ion channel KIR6.2, which are encoded by the genes ABCC8 and KCNJ11, respectively.
  Activating mutations in the subunit genes can result in monogenic diabetes, whereas inactivating mutations are the (...)

• cblC type of combined methylmalonic aciduria and homocystinuria
  2 February 2006

  cobalamine deficiency type C; cblC type cobalamine deficiency

• KCNJ11-associated hyperinsulinism
  25 January 2010

  K(ATP) channels regulate insulin secretion from pancreatic beta-cells. Loss- and gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause hyperinsulinism of infancy and neonatal diabetes, respectively.
  The ATP-sensitive potassium (K(ATP)) channel controls insulin secretion by coupling glucose metabolism to excitability of the pancreatic beta-cell membrane.
  The channel comprises four subunits each of Kir6.2 and the sulphonylurea receptor (SUR1), (...)

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