Diagnosis and Management of Hyperammonemia in Newborns: Is It Still a Challenge?

Abstract

Background: Hyperammonaemia is a serious cause of mortality and morbidity duringin the neonatal period, regardless of the aetiology. Quickly differentiatingon between inherited metabolic diseases (IMDs) and other causes is important in terms of for treatment and prognosis. We This study aimed to determine the diagnostic and prognostic differences between IMD- and non-IMD-related causes with based on a literature review. Methods: Clinical and laboratory data of newborns treated for hyperammonaemia between 2016 and 2019 were evaluated retrospectively. Results: Hyperammonaemia was detected in 60 out of 1963 (3%) patients, and 25% of these patients were diagnosed with IMD. The most common non-IMD etiologies were sepsis (31.6%) and prematurity (31.6%). Significant differences were detected between the two groups inregarding gestational age (P=0.001) and birth weight (P=0.005)were detected (p=0.001 and p=0.005, respectively). Moreover, another significant difference was observed between the two groups in terms of glutamine (P=0.004), alanine (P=0.004), and citrulline (P=0.001) levels and as well as the proportions of glutamine to arginine (G/A)P=0.001), citrulline (G/CP=0.0001), ornithine (G/OP=0.003), and alanine (G/A) (P=0.003). Conclusion: Metabolic screening tests should be performed to rapidly diagnose hyperammonaemia. In addition to the diagnosing diagnosis of IMDs, it can promptly differentiate non-metabolic causes.