Directory of GRACILE Syndrome Resources

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Gracile Syndrome is an autosomal recessive metabolic disorder presenting with fetal growth retardation, Fanconi type aminoaciduria, cholestasis, iron overload (liver hemosiderosis), profound lactic acidosis, and early death. It is sometimes known as Fellman syndrome.

Resources in This Category

• Gracile Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

  http://www.ncbi.nlm.nih.gov/pmc/articles/PMC378542/
  2002 paper by Visapää et al.

• Molecular Genetics of The Gracile Syndrome

  http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/visapaa/molecula.pdf
  Very detailed information in the form of a dissertation by Ilona Visapää.

• Online Mendelian Inheritance in Man

  http://omim.org/entry/603358
  Details the state of knowledge of the genetics of Gracile Syndrome.

Related Categories

• Home > Health > Conditions and Diseases > Blood Disorders > Hemochromatosis
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