<i>FLAD1</i>‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

Abstract

Newborn screening, designed to screen for specific treatable congenital metabolic diseases, may also lead to the diagnosis of additional, very rare metabolic disorders such as FLAD1 deficiency. The case further illustrates that even milder forms of FLAD1 deficiency are detectable in the asymptomatic state by newborn screening.