FIGURE 4.

Genetic mutations of ACADM gene resulting in MCAD Protein Misfolding. (A) Normal protein structure of MCADD. The location of the ACADM gene is indicated on Chromosome 1 with a red line. The MCAD protein is depicted in blue, in complex with the electron transport chain (ETC). (B) Location, protein misfolding, and inheritance of K329E mutation. The structure of the MCAD protein harbouring the K329E mutation is depicted. The autosomal recessive inheritance pattern of the mutation is depicted in a pedigree chart on the right.