Neonatal Metabolic Emergencies

cocukacil-5-1-2024

Ayşe KILIÇa

aAnkara Training and Research Hospital, Clinic of Pediatric Metabolic Diseases, Ankara, Türkiye

ABSTRACT
Inborn errors of metabolism (IEM) are rare single gene disorders but collectively the incidence is higher especially in countries where consanguineous marriages are common. Although neonatal screening programs are useful for the early detection of IEM in many countries, symptoms may appear before screening results are available or a sick neonate may have another disease that is not included in the screening program. Therefore, suspicion of an IEM in a sick neonate is critical for early diagnosis. Even if clinical symptoms are not specific for IEM, basal and metabolic investigations should be performed in all sick neonate with unexplained findings. Upon first clues for diagnosis treatment should be started immediately to prevent morbidity and mortality.
Keywords: Acidosis; ketosis; metabolic diseases; lactic acid; hyperammonemia

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