GRACILE syndrome is a very rare lethal autosomal recessive genetic disorder, one of the Finnish heritage diseases.

[2] GRACILE is an acronym for growth retardation, aminoaciduria (amino acids in the urine), cholestasis, iron overload, lactic acidosis and early death.

In particular, the protein is a key contributor in the formation of Complex III that is part of the electron transport chain.

[5] The liver histology shows microvesicular steatosis and cholestasis with abundant iron accumulation in hepatocytes and Kupffer cells.

[citation needed] There are currently a combination of 55 biochemical and molecular genetics tests that can be completed prior to birth to diagnose GRACILE syndrome.