Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report

• Main Authors: Evelina Maines (Author), Roberto Franceschi (Author), Francesca Rivieri (Author), Giovanni Piccoli (Author), Björn Schulte (Author), Jessica Hoffmann (Author), Andrea Bordugo (Author), Giulia Rodella (Author), Francesca Teofoli (Author), Monica Vincenzi (Author), Massimo Soffiati (Author), Marta Camilot (Author)
• Format: Book
• Published: MDPI AG, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA. A dedicated test for MCEE deficiency is not included in the newborn screening (NBS) panels but it...