Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity

• Main Authors: Go Tajima (Author), Keiichi Hara (Author), Miyuki Tsumura (Author), Reiko Kagawa (Author), Fumiaki Sakura (Author), Hideo Sasai (Author), Miori Yuasa (Author), Yosuke Shigematsu (Author), Satoshi Okada (Author)
• Format: Book
• Published: MDPI AG, 2023-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Carnitine palmitoyltransferase (CPT) II deficiency is a long-chain fatty acid oxidation disorder. It manifests as (1) a lethal neonatal form, (2) a hypoglycemic form, or (3) a myopathic form. The second form can cause sudden infant death and is more common among Japanese people than in other ethnic...