Inborn errors of metabolism around time of birth

Lancet. 2000 Aug 12;356(9229):583-7. doi: 10.1016/s0140-6736(00)02591-5.


Inborn errors of metabolism commonly present around the time of birth. Although most affected babies are born healthy and subsequently deteriorate, some disorders may present at (or shortly after) birth and a few may be detected by antenatal ultrosonography. In many cases, it is important that the diagnosis is made quickly and a strategy to identify those at high risk is proposed. Treatment should not be delayed for a definitive diagnosis.

Publication types

  • Review

MeSH terms

  • Humans
  • Infant, Newborn
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / therapy*
  • Neonatal Screening