 The gene responsible for LCHAD has been isolated, and the most common mutation found in acute fatty liver of pregnancy is the E474Q missense mutation.LCHAD deficiency is autosomal recessive in inheritance and mothers are often found to be heterozygous for the affected mutation.The diagnosis of acute fatty liver of pregnancy is usually made on clinical grounds by the treating physician or midwife, but differentiation from other conditions affecting the liver may be difficult.