A novel mutation was identified in two unrelated patients with medium- chain acyl-CoA dehydrogenase deficiency. First, a 19-year-old Caucasian female presented with a devastating illness, resulting in sudden death in adulthood which is unusual. The second patient, now a 3.5-year-old male, presented at 17 months of age with a hypoglycemic seizure and dehydration. Sequence analysis revealed a novel mutation G617T in exon 8 resulting in an arginine to leucine substitution at codon 206 (R206L). Both patients were compound heterozygous for this G617T and the common mutation A985G. (C) 2000 Academic Press.
- MCAD deficiency
- Mitochondrial β-oxidation
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Molecular Biology