Primary disorders of metabolism and disturbed fetal brain development

Abstract

There exists a link between the in utero metabolic environment and the development of the fetal nervous system. Prenatal neurosonography offers a unique, noninvasive tool in the detection of developmental brain malformations and the ability to monitor changes over time. This article explores the association of malformations of cerebral development reported in association with inborn errors of metabolism, and speculates on potential mechanisms by which such malformations arise. The detection of cerebral malformations prenatally should lead to a search for both genetic etiologies and inborn errors of metabolism in the fetus. Improving the changes of an early diagnosis provides for timely therapeutic interventions and it is hoped a brighter future for affected children and their families.