Gonzales et al. described a case report where a pair of 8-month-old sisters with progressive cholestasis and liver failure were compound heterozygous for two missense mutations in AKR1D1: P133R (467 C > G) in exon 4 and R261C (850 C > T) in exon 7 [25]. The gene discussed is AKR1D1; the disease is cholestasis.