INHERITANCE OF THE S113L MUTATION WITHIN AN INBRED FAMILY WITH CARNITINE PALMITOYLTRANSFERASE ENZYME DEFICIENCY

Deficiency of carnitine palmitoyltransferase type II (CPT II) is a cli nically heterogeneous autosomal recessive disorder of lipid metabolism . The most common mutation in the CPT II gene is the S113L mutation, w hich substitutes leucine for serine at amino acid position 113. We stu died an inbred family with three affected cousins with CPT II deficien cy and found the S113L mutation to be present in a homozygous state in all three patients. Pedigree analysis traced the S113L mutation back to one common ancestor. Although the patients in this family have an i dentical genotype at the CPT II locus, their clinical picture ranges f rom asymptomatic to lethal.