Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
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Yang BZ, Ding JH, Zhou C, Dimachkie MM, Sweetman L, Dasouki MJ, Wilkinson J, Roe CR
Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Mol Genet Metab. 2000 Mar;69(3):259-62.
- PubMed ID
- 10767181 [ View in PubMed]
- Abstract
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.