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.
Related categories 2
Gracile Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L
2002 paper by Visapää et al.
Molecular Genetics of The Gracile Syndrome
Very detailed information in the form of a dissertation by Ilona Visapää. [pdf]
Online Mendelian Inheritance in Man
Details the state of knowledge of the genetics of Gracile Syndrome.
Last update:September 26, 2015 at 6:21:38 UTC