[Congenital errors of metabolism with repercussion on the nervous system of the newborn infant. When and how to investigate them]

Abstract

Introduction and development: In the last years we have assisted to a great knowledge of inborn errors of metabolism (IEM). As consequence, the clinical suspicion of IEM in neuropediatrics is more frequent. The IEM must be investigated in the newborn with neurologic symptoms without any evident etiology, when anamnesis of gestation and delivery is not informative. The IEM play an important role in infants with severe hypotonia, seizures, some dysmorphic children and when there is a multisystem disorder. They must be investigated too when the fetus shows hydrops fetalis, seizures, cardiomyopathy, and pericardial effusion; also when there is a family history of IEM or sudden infant death in a brother or HELLP syndrome in the pregnant mother. Some times routine laboratory investigations may be useful for diagnosis, although in other occasions more specific and sophisticated laboratory studies are necessary.

Conclusions: This is a review of different neurological presentation of IEM in the newborn and the importance of different investigations in the diagnosis. We comment the diagnosis problems in some diseases, and new neurometabolic diseases with presentation in the first months of life and how to diagnose them.