AIM OF THE STUDY: To report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. MATERIALS AND METHODS: The genomic DNAs from a patient whose main clinical presentations are muscles weakness and hypoglycemia was analysed. RESULTS: The patient was identified to carry compound heterozygous mutations in ETFDH gene. Two missense mutations c.814 G > A and c.389 A > T were found. CONCLUSION: This is the first report of c.814G > A mutation in ETFDH in adult patient with MADD.
AIM OF THE STUDY: To report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. MATERIALS AND METHODS: The genomic DNAs from a patient whose main clinical presentations are muscles weakness and hypoglycemia was analysed. RESULTS: The patient was identified to carry compound heterozygous mutations in ETFDH gene. Two missense mutations c.814 G > A and c.389 A > T were found. CONCLUSION: This is the first report of c.814G > A mutation in ETFDH in adult patient with MADD.
Authors: A Maguolo; G Rodella; A Dianin; R Nurti; I Monge; E Rigotti; G Cantalupo; L Salviati; S Tucci; F Pellegrini; G Molinaro; F Lupi; P Tonin; A Pasini; N Campostrini; F Ion Popa; F Teofoli; M Vincenzi; M Camilot; G Piacentini; A Bordugo Journal: Mol Genet Metab Rep Date: 2020-08-05