Inborn Errors of Metabolism: A Three-Year Experience

Objective: The deficiency or absence of an enzyme or cofactor in the metabolic pathway leads to the formation or accumulation of a specific metabolite resulting in inborn errors of metabolism (IEM). These babies generally healthy at birth, will present symptoms such as reduced activity, inability to be fed, , difficulty in breathing, changes in consciousness, or seizures within hours or days after birth. Since these symptoms are not specific to IEM, a high degree of clinical suspicion is essential in the early diagnosis, and treatment so as to prevent complications and death. The aim of this study was to evaluate the clinical and biochemical characteristics of neonates diagnosed with IEM. Method: This retrospective study was performed in Neonatal Intensive Care Unit of SBU Izmir Behcet Uz Pediatrics Education and Research Hospital between 01.02.2015 and 01.02.2018. Demographic and clinical features and laboratory findings of the neonates were recorded. Results: Thirty-three patients with IEM were enrolled into the study. The median birth weight was 3000 (interquartile range: 2865-3300) gr, the median gestational week was 39 (interquartile range: 38 to 40) weeks. The most common presenting complaints were nutritional disorders and tachypnea with a rate of 45.5% Sat admission transaminase elevation (36.4%), hyperammonemia (36.4%), metabolic acidosis (33.3%) and hypoglycemia (27.3%) were detected. The most common diagnoses made were galactosemia (21.2%), Zellweger syndrome (9.1%) and non-ketotic hyperglycinemia (9.1%). Overall, 64.7% of the patients were discharged after improvement in their clinical, and laboratory findings. Conclusion: Nonspecific symptoms such as nutritional disorders, tachypnea, and jaundice, or nonspecific laboratory abnormalities such as metabolic acidosis or elevation of transaminase values should alert the physician for IEMs, particularly in countries where the prevalence of consanguineous marriages is high, such as Turkey.