A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns

• Published in: Children (Basel) Vol. 10; no. 8; p. 1341
• Main Authors: Onuki, Takanori, Hiroshima, Shota, Sawano, Kentaro, Shibata, Nao, Ogawa, Yohei, Nagasaki, Keisuke, Nyuzuki, Hiromi
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 01.08.2023; MDPI
• Subjects: 3-Methylcrotonyl-CoA carboxylase deficiency; Amino acids; Blood tests; Brief Report; Carnitine; Congenital diseases; Consent; Dehydrogenases; false-positive newborn screening; Fatty acids; Galactosemia; Headaches; Health aspects; Infants (Newborn); Mass spectrometry; maternal inborn errors of metabolism; Medical research; Medical screening; Medicine, Experimental; Metabolic disorders; Mothers; Newborn babies; newborn screening; Patients; Phenylketonuria; Physiological aspects; Pregnancy; primary systemic carnitine deficiency; Scientific imaging; Urinalysis; Japan

Background: There are reports of mothers being diagnosed with inborn errors of metabolism (IEM) via positive newborn screening (NBS) of their newborns. Mothers with IEM are often considered to have mild cases of little pathological significance. Based in Niigata Prefecture, this study aimed to inves...