Abstract
The relatively rare nature of congenital metabolic diseases in the newborn makes anaesthetizing such a baby a great challenge. Of all the disorders, congenital hypothyroidism is most common and one of the causes of preventable mental retardation. Congenital galactosemia, though another extremely rare disorder, yet understanding of its pathophysiology and presenting features is of utmost importance as these babies may present with metabolic acidosis and sepsis. Other significant metabolic disorders in the neonates include phenylketonuria (PKU), maple syrup urine disease, and congenital adrenal hyperplasia. Mass screening of neonates for inborn errors of metabolism started in the 1960s for PKU with huge benefits. Hence, screening all neonates for such disorders, early detection with timely intervention, becomes significant.
In this chapter, we will explore various inborn errors of metabolism in the neonates, and their presentation, metabolic crisis, and anaesthetic implications. Special emphasis is laid on the preoperative evaluation, intraoperative anaesthetic challenges, their management, and postoperative care, following surgery in these neonates, for safe conduct of anaesthesia and good postoperative outcome.
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Gupta, A., Pandurangi, S. (2023). Neonatal Screening for Metabolic Diseases. In: Saha, U. (eds) Clinical Anesthesia for the Newborn and the Neonate. Springer, Singapore. https://doi.org/10.1007/978-981-19-5458-0_5
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DOI: https://doi.org/10.1007/978-981-19-5458-0_5
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