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Evaluation of the Neonate with a Potential Metabolic Defect

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Principles of Perinatal—Neonatal Metabolism

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Abstract

The significant metabolic transition that the neonate experiences in the first few days after birth, makes him particularly vulnerable to the manifestation of a disease of intermediary metabolism. Such disorders as propionic acidemia,1 methylmalonic acidemia,2 the urea cycle diseases,3 fructose-1,6-diphosphatase deficiency,4 and galactosemia (PGa1 transferase deficiency)5 may lead to severe symptomatology within 2 to 3 days of the neonatal period. Severe forms of fatty acid oxidation6 and respiratory chain diseases disorders7 appear immediately after birth and may cause morbidity while the neonatologist is attempting to make a diagnosis. To make matters worse, cell-mediated immunodeficiency associated with some of these disorders may cause early neonatal bronchopneumonia or sepsis, confusing the clinician who, while treating the infection, misses the underlying metabolic disease, resulting in a neurologically crippled infant. Many of these diseases cause enough alterations in the acid-base balance, glucose, and ammonia homeostasis that a rapid metabolic workup is necessary to diagnose and appropriately treat the neonate before irreversible damage occurs.

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Authors
  1. Pinar T. Ozand
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  1. Department of Pediatrics, Brown University School of Medicine, Women and Infants Hospital of Rhode Island, 101 Dudley Street, Providence, RI, 02905-2401, USA

    Richard M. Cowett MD

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Ozand, P.T. (1998). Evaluation of the Neonate with a Potential Metabolic Defect. In: Cowett, R.M. (eds) Principles of Perinatal—Neonatal Metabolism. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-1642-1_53

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  • DOI: https://doi.org/10.1007/978-1-4612-1642-1_53

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