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

Errors of Metabolism During the Neonatal Period

There are over 300 EM that have been identified in man.[4] The disorders of metabolism diagnosed during the newborn/infancy period can be categorized, for the most part, into 1 of 6 areas. These are disorders of: 1) amino acids, 2) carbohydrates, 3) fatty acid oxidation, 4) lysosomal and peroxisomal function, 5) mitochondrial energy metabolism, and 6) organic acids. A summary of EM that have been diagnosed during the neonatal period is listed in Table 1 . This summary should not be considered all inclusive. New disorders of EM continue to be elucidated with the advances in clinical research.


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