Identification of a novel mutation in patients with medium-chain Acyl-CoA dehydrogenase deficiency

A novel mutation was identified in two unrelated patients with medium-chain acyl-CoA dehydrogenase deficiency. First, a 19-year-old Caucasian female p resented with a devastating illness, resulting in sudden death in adulthood which is unusual. The second patient, now a 3.5-year-old male, presented a t 17 months of age with a hypoglycemic seizure and dehydration. Sequence an alysis revealed a novel mutation G617T in exon 8 resulting in an. arginine to leucine substitution at codon 206 (R206L). Both patients were compound h eterozygous for this G617T and the common mutation A985G. (C) 2000 Academic Press.