Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan

• Main Authors: Go Tajima (Author), Junko Aisaki (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, 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a long-chain fatty acid oxidation disorder that manifests as either a severe phenotype associated with cardiomyopathy, a hypoglycemic phenotype, or a myopathic phenotype. As the hypoglycemic phenotype can cause sudden infant death, VLCAD d...