Also Known As
Fellman diseaseGrowth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndromeGrowth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndromegracile syndromeFLNMSFellman syndromeFinnish lactic acidosis with hepatic hemosiderosisFinnish lethal neonatal metabolic syndromeGrowth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early deathGrowth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early deathlactic acidosis, Finnish, with hepatic hemosiderosis
Definition
GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).