Ukraine’s healthcare system shows remarkable resilience in continuing newborn screening (NBS) program, beyond war challenges. Amid the conflict, a Ukrainian newborn screened positive for an extremely rare severe combined immunodeficiency (SCID) —purine nucleoside phosphorylase (PNP) deficiency. Ukraine successfully carried out NBS on neonatal dried blood spot (DBS) by real-time PCR, which showed remarkably reduced T-cell receptor and kappa-deleting recombination excision circles (TREC/KREC). Retesting was delayed due to difficult communication with the family. Whole exome sequencing on a new DBS confirmed the diagnosis. The newborn was candidate for al-logeneic hematopoietic stem cell transplantation (HSCT), the only curative treatment. HSCT is a complex procedure still ongoing in Ukraine despite the conflict. However, due to the psychosocial strain, the family sought medical support in Germany, where HSCT was performed successfully at 6 months. As part of a collaborative initiative with Italy, PNP biomarkers were quantified on the same DBSs using tandem mass spectrometry, according to the protocols established for SCID NBS in Tuscany, serving as a proof of concept of its diagnostic performance. This case highlights the importance of sustaining preventive and life-saving healthcare services, and reflects the key role of international partnerships in upholding the right to healthcare in times of crisis.

Ukraine’s healthcare system has shown remarkable resilience in continuing newborn screening (NBS), beyond the challenges of war. Amid the conflict, a Ukrainian newborn screened positive for an extremely rare severe combined immunodeficiency (SCID)–purine nucleoside phosphorylase (PNP) deficiency. Ukraine successfully carried out NBS on a neonatal dried blood spot (DBS) by real-time PCR, which showed remarkably reduced T-cell receptor and kappa-deleting recombination excision circles (TREC/KREC). Retesting was delayed due to communication difficulties with the family. Whole exome sequencing on a new DBS confirmed the diagnosis. The newborn was a candidate for allogeneic hematopoietic stem cell transplantation (HSCT), the only curative treatment. HSCT is a complex procedure still ongoing in Ukraine despite the conflict. However, due to the psychosocial strain, the family sought medical support in Germany, where HSCT was performed successfully at 6 months. As part of a collaborative initiative with Italy, PNP biomarkers were quantified on the same DBSs using tandem mass spectrometry, according to the protocols established for SCID NBS in Tuscany, serving as a proof of concept of its diagnostic performance. This case highlights the importance of sustaining preventive and life-saving healthcare services, and reflects the key role of international partnerships in upholding the right to healthcare in times of crisis.

Premature infants are newborns born before 260 days’ gestation. Every year, millions of children around the world are born prematurely. In 2020, in the United States, the number of premature infants was 10.2% of all newborns. In Ukraine, as of 2021, this number was 5.68%. The physiological immaturity of premature children is often the cause of perinatal pathology, as well as neonatal and infant mortality. Thus, in Ukraine, the mortality rate in this group of children was 9.56 times higher than that among fullterm newborns (3.54 versus 0.37 per 100 newborns, respectively). In addition, due to physiological immaturity, premature infants have a significant difference in metabolic profile, which significantly complicates the diagnosis of diseases, including congenital metabolic disorders, during neonatal screening. The aim of this study was to identify differences in the concentrations of some amino acids, acylcarnitines, methylmalonic acid and methylcitrate in dried blood spots of full-term newborns and premature infants of different gestational ages. A statistically significant difference was found in the concentrations of amino acids, acylcarnitines, methylmalonic acid and methylcitrate in blood samples of premature infants and full-term newborns according to the Kruskal – Wallis H-test, Student’s t-test and Welch’s t-test. Reference intervals for methylmalonic acid concentrations in dried blood spots for premature infants (<36 weeks of gestation) were determined – 0.25–1.88 μmol/L. Reference intervals for methylcitrate concentrations in dried blood spots for very premature infants (<32 weeks of gestation) and premature infants (32–36 weeks of gestation) were determined – 0.07–0.43 μmol/L and 0.05–0.23 μmol/L, respectively. The results obtained will allow increasing the efficiency of neonatal screening for hereditary metabolic disorders for the purpose of early and accurate diagnosis of hereditary metabolic disorders and timely correction of the identified pathology in premature infants.

The neuronal ceroid lipofuscinosis type 2 (CLN2) is a heterogeneous group of neurodegenerative lysosomal storage disorders caused by autosomal recessive inheritance of two pathogenic variants in trans in the TPP1 gene. Classical late‐infantile CLN2 disease has a very well‐defined natural history. However, a small number of patients with TPP1 enzyme deficiency present a later onset or protracted disease course within this group there are phenotypic variants. Our work aimed to identify pathological variants in the TPP1 gene that conditioned the development of CLN2 disease in Ukrainian patients, to compare these variants with those found in patients from other European and non‐European regions, and to make genotype–phenotype associations for this disease. The phenotypes and genotypes of the 48 CLN2‐affected individuals belonging to 43 families were profiled through clinical data collection, enzyme analysis, and genotyping. In most patients, genotype and phenotype correlation are in keeping with the data of previous studies. The clinical signs of the disease in patients with new, previously undescribed variants, allowed us to augment existing data about genotype–phenotype correlations for CLN2 disease. The combination of genotype and clinical form of the disease demonstrated that predicting the type and clinical course of the disease based on genotype is very complicated. The data we obtained supplements existing information on genotype–phenotypic correlations in this rare disease, which, in turn, lays the foundation for a personalized approach to the management of this disease.

Background. Pompe disease (PD) is a genetic orphan progressive multisystem neuromuscular disorder that belongs to the group of lysosomal storage diseases and often leads to death. The only treatment available is lifelong enzyme replacement therapy (ERT). Early diagnosis and early initiation of ERT prevent the development of PD manifestations. The purpose was to present the latest advances in the study of the pathogenesis, diagnosis, and clinical course of PD, as well as new directions in its treatment, to describe a clinical case of managing a child with PD at the Municipal Non-Profit Enterprise “Regional Clinical Children’s Hospital of the Kirovohrad Regional Council” in Kropyvnytskyi, and also to demonstrate the need for the use of new ERT agents in Ukraine. Materials and methods. Contemporary literature in Scopus, Web of Science, PubMed and other databases was analyzed. A clinical case of infantile-onset Pompe disease is presented. The registry of the Pompe Disease Center at the Erasmus University Rotterdam (Netherlands) was reviewed. Results. New directions in the study of PD pathogenesis (including autophagy disorders), the development and use of new ERT agents have been highlighted. A clinical case of an infantile-onset PD and the results of ERT use were analyzed: within one year of therapy, the child demonstrated improvement in general condition, re-emergence of previously lost motor skills, and reduction of cardiomyopathy signs. However, recovery of skeletal muscle function remained very slow, which led to the development of contractures. The emergence of new agents for PD therapy, whose effect on skeletal muscles is much better, offers prospects for improving the patient’s quality of life. ­Conclusions. Diagnosis of PD is challenging but feasible in Ukraine. Treatment consists of lifelong ERT, which should be initiated as early as possible. To ensure timely diagnosis, incorporation of acid α-glucosidase testing into neonatal genetic screening is advisable. According to the Erasmus University Rotterdam PD registry, the patient’s prognosis is potentially less severe; however, based on the clinical course, the child requires the use of new ERT agents.