GRACILE syndrome

GRACILE syndrome is an autosomal recessive genetic disorder, one of the Finnish heritage diseases. It is caused by mutation in BCS1L gene.

GRACILE is an acronym for growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death. Other names for this syndrome include Finnish lethal neonatal metabolic syndrome (FLNMS); lactic acidosis, Finnish, with hepatic hemosiderosis;  and Fellman syndrome.