Mutations in the human BCS1L gene, which encodes a Bcs1 homolog, are associated with several human diseases such as encephalopathy, tubulopathy and hepatopathy, growth retardation, GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome and Björnstad syndrome [6,7,8]. This evidence concerns the gene BCS1L and Björnstad syndrome.