Metabolic disease

Articles

• Tay-Sachs disease
  18 June 2005

  Tay-Sachs disease, the most common form of GM2 gangliosidosis, results from mutations that affect the α-subunit locus on chromosome 15 and cause a severe deficiency of hexosaminidase A. This disease is especially prevalent among Jews, particularly among those of Eastern European (Ashkenazic) origin, in whom a carrier rate of 1 in 30 has been reported.
  Etiology
  Tay-Sachs disease is caused by mutation in the alpha subunit of the hexosaminidase A gene (HEXA) (MIM.606869)
  Tay-Sachs Disease (...)

• 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)

• 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 (...)

• urea cycle diseases
  19 April 2004

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

• anomalies of plasmalogens biosynthesis
  9 June 2003
• plasmalogens deficiency
  9 June 2003
• 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 (...)

• 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

• 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

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