A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genomics"
DOI: 10.1186/s12920-020-0665-6
Abstract: 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… read more here.
Keywords: etfa gene; multiple acyl; case report;