Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.
Giacomo BiasucciNicola MorelliFederica NatacciMassimo MastrangeloPublished in: Italian journal of pediatrics (2018)
To the best of our knowledge, this is the first case of early post-natal onset of GA-I reported in literature to date, in the absence of expanded newborn screening (NBS) programme. As expanded NBS programmes for inborn errors of metabolism have not yet been internationally adopted, we are of the opinion that such diseases may well be hidden by misleading signs and symptoms imputable to other more frequent harmful clinical conditions. Moreover, it would be advisable that neonatologists be trained to include GA-I in the differential diagnosis of neurological damage secondary to PA.