GRACILE syndrome

GRACILE syndrome is a very rare, lethal, autosomal recessive genetic disorder and one of the Finnish heritage diseases, occurring in roughly 1 in 50,000 live births among Finnish people and also reported in the United Kingdom and Sweden. The name is an acronym for growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death. It is caused by a point mutation in the BCS1L gene, which helps assemble complex III of the mitochondrial electron transport chain, and the resulting deficiency falls hardest on the liver and kidneys. Affected babies grow slowly before birth, and in one Finnish study half died within 3 days of birth and the rest before 4 months of age.