Genetic metabolic diseases

• metabolic networks
  8 October 2016

  metabolic network
  Understanding the control of large-scale metabolic networks is central to biology and medicine.
  Authors introduce new coupling types describing the relations between reaction activities, and develop an efficient computational framework, which does not require any cellular objective for systematic studies of large-scale metabolism.
  They identify the driver reactions facilitating control of 23 metabolic networks from all kingdoms of life. They find that unicellular (...)

• pseudo Pelger-Huet anomaly
  2 October 2016

  Pseudo Pelger-Huet anomaly, like Pelger-Huet anomaly , is characterized by hyposegmented, bilobed neutrophils. Pelger-Huet anomaly is genetic, pseudo Pelger-Huet anomaly is acquired, and can be an early sign of myelodysplasia. It can also be found in AML and CML, be drug induced, or from nutritional deficiencies (B12, folate) or infections.

• Alder-Reilly anomaly
  2 October 2016

  Alder-Reilly anomaly is associated with mucopolysaccharidosis (AR). WBCs show dense azurophilic granules resembling toxic granulation. Lymphocytes show metachromatic granules surrounded by a clear zone.
  See also
  mucopolysaccharidoses (MPS / MPSs )

• familial hypercholesterolemia
  1 June 2016

  Images
  tuberous xanthoma associated with familial hypercholesterolemia https://twitter.com/KUSAURAP/status/737866086092279808
  Examples
  autosomal dominant hypercholesterolemia
  See also
  metabolic diseases

• ochronosis
  29 April 2016

  Etiology
  alkaptonuria
  Image
  banana bodies in ochronosis https://twitter.com/VishwasParekh/status/710641171761143808 https://twitter.com/JCandidoXavier/status/1167029926207401985

• 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 (...)

• gangliosidoses
  29 April 2016

  Types
  GM1 gangliosidosis
  GM2 gangliosidosis
  See also
  lipidic metabolic diseases

• Gaucher disease type 1
  26 December 2012

  Gaucher’s disease type 1
  Digital slide
  JRC:3544 : Gaucher disease type 1.
  See also
  Gaucher disease

• Niemann-Pick disease type B
  15 August 2012

  NPDB; acid sphingomyelinase deficiency
  Definition: NPD type B is a rare inborn error of metabolism of autosomal recessive inheritance. Patients with Niemann-Pick disease type B (NPDB) have a benign course and prognosis. It is mainly a visceral form without neurologic manifestations despite the massive visceral involvement. NPDB is caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1) (MIM.607608)
  Digital slides
  Case 52 (HPC:52) : Liver in (...)

• Sengers syndrome
  7 February 2012

  Cataract and cardiomyopathy syndrome
  Etiology
  mutations in the gene encoding mitochondrial acylglycerol kinase (AGK).
  Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK).
  Mutation screening of AGK in further individuals with congenital cataracts and cardiomyopathy (...)

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