Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
Álvaro Martín-RivadaAna Cambra ConejeroElena Martín-HernándezAna Moráis LópezAmaya Bélanger-QuintanaElvira Cañedo VillarroyaPilar Quijada-FraileMarcelo BellusciSilvia Chumillas CalzadaAna Bergua MartínezSinziana StanescuMercedes Martínez-Pardo CasanovaPedro Ruíz-SalaMagdalena UgarteBelén Pérez GonzálezConsuelo Pedrón-GinerPublished in: Journal of pediatric endocrinology & metabolism : JPEM (2022)
Elevated C3 are a frequent cause for abnormal result in newborn screening with a high rate of false positive cases. Presymptomatic diagnosis of most of PA and some MMA/MMAHC is difficult. Vitamin B12 deficiency secondary to maternal deprivation is frequent with an heterogenous clinical and biochemical spectrum.