Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening

Autor: Tomoyo Itonaga, Miwako Maeda, Hiroshi Koga, Yuki Hasegawa, Kenji Ihara

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101024- (2024)

3-Methylglutaconic aciduria type 1 (MGCA1) is an inborn error of leucine catabolism caused by pathogenic variants of the AUH gene. MGCA1 can be identified by newborn screening (NBS) with elevated C5-OH levels. We herein report a girl with MGCA1 detec

Externí odkaz: https://doaj.org/article/d4c4edb9e34f4286b3a2290ba59f27be

Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening.

Autor: Itonaga T; Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Idaigaoka, Hasama, Yufu, Oita 879-5593, Japan., Maeda M; Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Idaigaoka, Hasama, Yufu, Oita 879-5593, Japan., Koga H; Department of Pediatrics, National Hospital Organization Beppu Medical Center, 1473 Oaza-Uchikamado, Beppu, Oita 874-0011, Japan., Hasegawa Y; Department of Pediatrics, Japanese Red Cross Matsue Hospital, 200 Horomachi, Matsue, Shimane 690-8506, Japan., Ihara K; Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Idaigaoka, Hasama, Yufu, Oita 879-5593, Japan.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Nov 22; Vol. 38, pp. 101024. Date of Electronic Publication: 2023 Nov 22 (Print Publication: 2024).