Errores innatos del metabolismo Parte 1

Inborn Errors of Metabolism: Part 1, Overview

Pediatricians need to recognize and become familiar with these diseases not only to help with the diagnosis but also to help educate parents and advocate for patients. Some patients may fall ill with inherited metabolic disorders not currently detected by newborn screening; others may have conditions that were missed on their newborn screens. Affected children may present at a few days to a few months of age with lethargy or vomiting and be thought to have sepsis or shock. Other disorders may present at a later age with a more indolent picture of developmental delay or regression.