Metabolic disease

Articles

• LDHCP syndrome
  20 March 2005

  Lipoatrophy with Diabetes, Hepatic steatosis, hypertrophic Cardiomyopathy and leucomelanodermic Papules (LDHCP)

• glycogen storage disease type 1b
  13 October 2009

  GSD1b; glycogenosis type 1b

• diabetic embryopathy
  5 April 2004

  Synopsis
  caudal regression syndrome and sirenomelia
  holoprosencephaly
  References
  Eriksson UJ, Borg LA, Cederberg J, Nordstrand H, Siman CM, Wentzel C, Wentzel P. Pathogenesis of diabetes-induced congenital malformations. Ups J Med Sci. 2000;105(2):53-84. PMID: #11095105#
  Kousseff BG. Diabetic embryopathy. Curr Opin Pediatr. 1999 Aug;11(4):348-52. PMID: #10439209#
  Reece EA, Homko CJ, Wu YK, Wiznitzer A. The role of free radicals and membrane lipids in diabetes-induced congenital (...)

• proteoglycans defects
  6 October 2003

  proteoglycan defects

• 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 (...)

• GRACILE syndrome
  27 October 2003

  Definition: GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.
  Etiology
  mutation in BCS1L gene (2q33-37)

• CDG2C
  28 November 2007

  leukocyte adhesion deficiency type 2 (LAD2)

• pulmonary Hurler disease
  14 March 2011

  Lung in Hurler disease; lung involvement in Hurler disease, Alpha-L-Iduronidase Deficiency, IDUA Deficiency, MPS I. Includes: Hurler Syndrome (MPS I H), Hurler-Scheie Syndrome (MPS I H/S), Scheie Syndrome (MPS I S)
  Digital case
  Case 202 (HPC:202) : Lung in Hurler disease
  Synopsis
  interstitial pneumonia
  interstitial deposition of mucopolysaccharides
  cholesterol bronchiolitis
  See also
  Hurler disease
  References
  NCBI (...)

• Alpers syndrome
  19 June 2005

  Definition: Alpers syndrome is usually characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children.
  The illness usually begins in early life with convulsions. A progressive neurologic disorder characterized by spasticity, myoclonus, and dementia ensues. Status epilepticus is often the terminating development. Definitive diagnosis is shown by postmortem examination of the brain and liver.
  Alpers syndrome can be caused (...)

• peroxisomal acyl-CoA-oxidase deficiency
  26 May 2009

  References
  Peroxisomal acyl-CoA-oxidase deficiency: two new cases. Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E. Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. PMID: #18536048#

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