Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?

• Main Authors: Rachel Mador-House (Author), Zaiping Liu (Author), Sarah Dyack (Author)
• Formato: Libro
• Publicado: MDPI AG, 2021-08-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Early-onset carnitine palmitoyltransferase II deficiency (CPT II deficiency) (OMIM 600650) can result in severe outcomes, which are often fatal in the neonatal to infantile period. CPT II deficiency is a primary target in the Maritime Newborn Screening Program. We report a case of neonatal-onset CPT...