Genetic defects in remnant catabolism are uncommon and result from muations in the apo E gene. Multiple mutations have been described, although arginineΓÇôcytseine substitution at residue 158 of the gene is most common. Most of the mutations described result in a change that can be detected by isoelectric focusing. More recently, polymerase chain reaction (PCR) techniques have been used to characterise defects in apo E.
Although most cases of remnant removal disease result from inheritance of an abnormal gene from both parents, autosomal dominant forms of apo E defects have also been described.
