Metabolic Diseases in Hyperammonemic Newborns
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Inborn errors of metabolism are inherited defects in biochemical pathways affecting metabolism of fats, amino acids, or carbohydrates. Some inborn errors of metabolism present with elevated ammonia in newborns (>100 ์micromolar). Because these conditions are life threatening if not treated promptly, maintaining a high degree of clinical suspicion in sick neonates is essential. In the newborn period, the immediate goals include:
- Establish a tentative diagnosis.
- Initiate presumptive management.
- Send confirmatory studies.
- Involve a team trained in treating patients with inborn errors of metabolism.