Metabolic disease

Articles

• 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

• MELAS
  21 November 2003

  Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke like symptoms, MELAS syndrome

• cobalamin deficiency type C
  14 March 2011

  cobalamin C disease; cobalamin deficiency type cblC with homocystinuria (MMACHC)

• 3-hydroxysteroid dehydrogenase deficiency
  25 May 2009

  3β-Hydroxysteroid dehydrogenase

• metachromatic leukodystrophy
  4 June 2006

  arysulfatase A deficiency, ARSA deficiency, cerebroside sulfatase deficiency, sulfatide lipidosis, MLD, metachromatic leukodystrophy, sulfatase deficiency; metachromatic leukodystrophies
  Metachromatic Leukodystrophy is transmitted in an autosomal-recessive pattern.
  It results mostly from a deficiency of the lysosomal enzyme arylsulfatase A (arylsulfatase A deficiency). This enzyme, present in a variety of tissues, cleaves the sulfate from sulfate-containing lipids (sulfatides), the first (...)

• 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 (...)

• Gaucher disease
  1 October 2003

  Definition: Gaucher disease refers to a cluster of autosomal recessive disorders resulting from mutations in the gene encoding glucocerebrosidase. Acid beta-glucocerebrosidase, also known as beta-glucosidase (GBA) (EC 3.2.1.45), is a lysosomal enzyme that catalyzes the breakdown of the glycolipid glucosylceramide to ceramide and glucose.
  This disease is the most common lysosomal storage disorder. The affected gene encodes glucocerebrosidase, an enzyme that normally cleaves the glucose (...)

• hyperinsulinism-hyperammonemia syndrome
  24 April 2004

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

• mucolipidosis type IV
  12 November 2003

  Mucolipidosis type IV (ML-IV) is an autosomal recessive lysosomal storage disease that causes severe neurologic abnormalities.
  Synopsis
  brain : pigmented cytoplasmic granules in neurons and accumulation of lamellated membrane structures in lysosomes
  stomach: cytoplasmic vacuolization of parietal cells
  Ultrastructure
  lysosomal inclusions in gastric parietal cells
  Animals models
  Mouse: #17924347#
  Reviews
  Slaugenhaupt SA. The molecular basis of mucolipidosis type IV. Curr Mol (...)

• urea cycle diseases
  19 April 2004

  urea-cycle disorders, urea cycle disorder, disorders of the urea cycle, anomalies of urea cycle

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