Many different types of inborn errors of metabolism affect the liver of infants and children. The advent of sophisticated molecular and biochemical technologies has allowed a greater understanding of the pathogenesis of these disorders. In particular, the polymerase chain reaction has dramatically facilitated studies of the pathogenesis and has permitted the development of novel diagnostic techniques. Therefore, we review the polymerase chain reaction, recent advances in molecular diagnostic techniques for antenatal and postnatal diagnosis, and the recent literature on several of the more important inborn errors of metabolism that affect the liver.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health