Inborn Errors of Metabolism

Abstract

Inborn errors of metabolism are a group of inherited disorders that are generally due to a block in an enzymatic pathway. In the past, individuals with inborn errors of metabolism were mainly isolated to the pediatric population. However, with the advent of newborn screening and improved treatment strategies, these patients are now reaching childbearing age. Many successful pregnancies in females with various inborn errors of metabolism have been reported. It is pertinent that obstetrician gynecologists are aware of these conditions and their management guidelines. This review will discuss three main categories of inborn errors of metabolism including protein metabolism disorders, carbohydrate metabolism disorders, and lipid metabolism disorders. This review contains 5 tables, and 30 references. Keywords: Inborn errors of metabolism, phenylketonuria, maternal PKU syndrome, ornithine transcarbamylase deficiency, galactosemia, fatty acid oxidation disorders