Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation

• Autors principals: Michael Jakoby MD, MA (Autor), Amruta Jaju MD (Autor), Aundrea Marsh BS (Autor), Andrew Wilber PhD (Autor)
• Format: Llibre
• Publicat: SAGE Publishing, 2021-05-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder caused by loss of function mutations in the solute carrier family 22 member 5 ( SLC22A5 ) gene that encodes a high-affinity sodium-ion-dependent organic cation transporter protein (OCTN2). Reduced carnitine transport results i...