A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene

• Main Authors: Robin Chautard (Author), Cécile Laroche-Raynaud (Author), Anne-Sophie Lia (Author), Pauline Chazelas (Author), Paco Derouault (Author), Franck Sturtz (Author), Yasser Baaj (Author), Alice Veauville-Merllié (Author), Cécile Acquaviva (Author), Frédéric Favreau (Author), Pierre-Antoine Faye (Author)
• Format: Book
• Published: BMC, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalence in the general population is estimated to be 9/1...