I. Handig et al., INHERITANCE OF THE S113L MUTATION WITHIN AN INBRED FAMILY WITH CARNITINE PALMITOYLTRANSFERASE ENZYME DEFICIENCY, Human genetics, 97(3), 1996, pp. 291-293
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.