GRACILE syndrome

GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a rare autosomal recessive disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. It has been described mostly in newborn infants with parents of Finnish origin. It is caused by mutations in BCS1L. The BCS1L gene encodes a chaperone responsible for assembly of mitochondrial respiratory chain complex III.