Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

• Main Authors: Charles R. Lefèvre (Author), François Labarthe (Author), Diane Dufour (Author), Caroline Moreau (Author), Marie Faoucher (Author), Paul Rollier (Author), Jean-Baptiste Arnoux (Author), Marine Tardieu (Author), Léna Damaj (Author), Claude Bendavid (Author), Anne-Frédérique Dessein (Author), Cécile Acquaviva-Bourdain (Author), David Cheillan (Author)
• Format: Book
• Published: MDPI AG, 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiology and wide clinical spectrum. To date, few count...