Browse the corpus

Inherited Metabolic Disorders in the Neonatal Intensive Care Unit: Red Flags to Look Out For. BACKGROUND: We aim to assess symptoms, laboratory findings, and radiological abnormalities in patients diagnosed with inherited metabolic disorders (IMDs) in the neonatal intensive care unit (NICU). METHODS: A total of 6,150 newborns treated in a 3rd level NICU between 2012 and 2020 in Turkey were screened, of which 195 consulted with a suspicion of metabolic disease based on their clinical, laboratory, or radiological findings were included in the present study. RESULTS: The prevalence of IMDs was 1:94.6 in the patients. Those consulted in the department of pediatric metabolism were divided into two groups, with the 65 diagnosed with IMDs assigned as Group I, and the 130 patients who were not diagnosed with IMDs as Group II. The most common IMDs were organic acidemias (29.23%) and urea cycle disorders (UCDs) (26.15%). The rates of consanguinity marriage (75.3% vs. 37.6%, p<0.001), sibling diagnosed with an IMD (27.6% vs. 3.8%, p<0.001), and sibling death (56.9% vs. 14.6%, p<0.001) were higher in Group I than in Group II. Hyperammonemia (61.5% vs. 18.4%, p<0.001) was found to be the most common laboratory finding in Group I, and anemia (Group I 60.0% vs. 43.0% p=0.033), metabolic acidosis (53.8% vs. 36.9%, p=0.028) and respiratory alkalosis (16.9% vs. 1.5%, p<0.001) were all higher in Group I. CONCLUSION: This retrospective study found that the results of clinical findings and basic laboratory tests could be strong indicators of IMDs, although extensive newborn screening tests and advanced biochemical and genetic tests should be carried out for the diagnosis of IMDs in newborns.