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GRACILE syndrome

Monday 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)