Not So Rare: Errors of Metabolism During the Neonatal Period

Summary

The ability to diagnose more and more EM during the neonatal period is due to advances in biochemical genetics. After initial laboratory studies, certain conditions, such as metabolic acidosis and hyperammonemia, will be key clues to signal the need for further consultation with a metabolic disease specialist and more specific laboratory studies, though absence of these derangements does not preclude an EM diagnosis. Initial therapy is directed toward stabilization of the neonate. Long-term care is dependent and based on a definitive EM diagnosis. The majority of therapies are lifelong and require continual nutritional, medical, and laboratory monitoring. As children with EM are now surviving long term, the ability to provide them and their families anticipatory guidance as to their long-term physical, mental, and emotional needs is becoming increasingly important. As these children reach adulthood, their reproductive abilities and the teratogenic effect that their disease or its treatment can or will have on their children is unknown. In virtually all cases of probable EM, the diagnosis is possible even if it is established postmortem. A diagnosis is essential to provide the family, who may have already suffered the loss of a newborn, with thoughtful genetic counseling.

NAINR. 2003;3(4) © 2003 W.B. Saunders