Inherited metabolic disorders in the neonatal intensive care unit: Red flags to look out for

Abstract

Background We aimed to assess symptoms, laboratory findings, and radiological abnormalities in patients diagnosed with inherited metabolic disorders (IMDs) in the neonatal intensive care unit. Methods A total of 6,150 newborns treated in a third‐level neonatal intensive care unit 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 in the patients was 1:94.6. 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), siblings 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 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. Conclusions 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.

Türkiye’s First Multidisciplinary Gene Therapy Education Program: History and Plans for the Future

“…[9] In recent years, with the increasing number of publications reporting successful results from gene therapies, the scientific curiosity of clinicians with an interest in genetic diseases has been raised. [11] Due to the high rate of consanguineous marriage in our country, the frequency of autosomal recessive monogenic diseases is relatively higher than in other countries, [12] and so developing the necessary infrastructure and providing the necessary training to healthcare personnel in gene therapy in the coming years is essential. In the present study, we put forward a training program aimed at raising the awareness and knowledge of clinicians/ researchers operating in various disciplines with an interest in monogenic inherited diseases that can benefit from gene therapy.…”