FLAD1 ‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

ConclusionNewborn screening, designed to screen for specific treatable congenital metabolic diseases, may also lead to the diagnosis of additional, very rare metabolic disorders such asFLAD1 deficiency. The case further illustrates that even milder forms ofFLAD1 deficiency are detectable in the asymptomatic state by newborn screening.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research