Mutations in the BCS1L gene, encoding a CIII chaperone, are the most common cause of CIII deficiency and result in a variety of phenotypes, the most severe of which is GRACILE syndrome (growth restriction, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death) highlighting the phenotypic heterogeneity in humans (Visapaa et al, 2002; Kotarsky et al, 2012; Kasapkara et al, 2014; Rajendran et al, 2019). This evidence concerns the gene BCS1L and Tangier disease.