A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report

• Main Authors: Loredana De Pasquale (Author), Petronilla Meo (Author), Francesco Fulia (Author), Antonio Anania (Author), Valerio Meli (Author), Antonina Mondello (Author), Maria Tindara Raimondo (Author), Viviana Tulino (Author), Maria Sole Coletta (Author), Caterina Cacace (Author)
• Format: Book
• Published: BMC, 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II is an extremely rare autosomal recessive inborn error of fatty acid beta oxidation and branched-chain amino acids, secondary to mutations in the genes encoding the electron transfer flavoproteins A and...