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: Kai Muru,
Karit Reinson,
Kadi K ünnapas,
Hardo Lilleväli,
Zahra Nochi,
Signe Mosegaard,
Sander Pajusalu,
Rikke K. J. Olsen,
Katrin Õunap Tags: CLINICAL REPORT Source Type: research