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

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 ۲۰۱۶ and ۲۰۱۹ were evaluated retrospectively. Results: Hyperammonaemia was detected in ۶۰ out of ۱۹۶۳ (۳%) patients, and ۲۵% of these patients were diagnosed with IMD. The most common non-IMD etiologies were sepsis (۳۱.۶%) and prematurity (۳۱.۶%). Significant differences were detected between the two groups inregarding gestational age (P=۰.۰۰۱) and birth weight (P=۰.۰۰۵)were detected (p=۰.۰۰۱ and p=۰.۰۰۵, respectively). Moreover, another significant difference was observed between the two groups in terms of glutamine (P=۰.۰۰۴), alanine (P=۰.۰۰۴), and citrulline (P=۰.۰۰۱) levels and as well as the proportions of glutamine to arginine (G/A)P=۰.۰۰۱), citrulline (G/CP=۰.۰۰۰۱), ornithine (G/OP=۰.۰۰۳), and alanine (G/A) (P=۰.۰۰۳). 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.  

کلیدواژه ها:

Hyperammonemia ، metabolic tests ، Newborns