Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p54 | Fat, Metabolism and Obesity | IMPE2023

The stability of amino acids, free and acyl-carnitine in dried blood specimens stored after newborn screening

Shimada Yumi , Kawano Nanae , Goto Miho , Watanabe Hiromi , Ihara Kenji

Background: Inborn errors of metabolism (IEM) are a consequence of genetic defects that lead to a metabolic block in a biochemical pathway critical to tissue-specific cellular functions. Prompt and effective intervention in screening-positive patients is particularly important in cases of IEM. Newborn mass screening has developed aiming to identify newborns who appear healthy but who could be at risk of developing metabolic attacks with the potential to lead t...