Not So Rare: Errors of Metabolism During the Neonatal Period

Sandra A. Banta-Wright, MN, RNC, NNP; Robert D. Steiner, MD


NAINR. 2003;3(4) 

In This Article

Differential Diagnosis of EM

The acute onset of EM in the neonate can be divided into two main categories of presentation: metabolic acidosis and hyperammonemia. A third category of presentation is hypoglycemia, but this is not as common as metabolic acidosis and hyperammonemia. For discussion of hypoglycemia and EM, several reviews are available.[3,4,5] An approach to the differential diagnosis with each of these clinical findings will be presented. The algorithms direct an approach to care that must be individualized to meet the newborn's specific needs. It is important to remember that EM can present with catastrophic illness in the neonatal period with no acidosis and a normal ammonia level. Examples include nonketotic hyperglycinemia (NKH), Zellweger syndrome, Cobalamin C defects, and pyridoxine dependency.[8,9,10,11,12]


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