Background: Gaucher disease (GD) type I is a rare lysosomal storage disorder characterized by systemic manifestations including hepatosplenomegaly, cytopenias, and skeletal complications. Although liver involvement is common, its clinical significance and diagnostic potential remain underexplored. Objectives: To analyze the spectrum of liver involvement in Ukrainian patients with type I Gaucher disease and to evaluate its clinical, biochemical, and diagnostic significance throughout the course of the disease. Methods: We retrospectively analyzed medical records of 89 patients with confirmed GD who were monitored at the National Children’s Specialized Hospital “Okhmatdyt” (Kyiv, Ukraine) between 2001 and 2023. Type I Gaucher was confirmed in 82 patients. Diagnosis was established through enzymatic and molecular genetic testing. Liver enlargement, hepatic structural changes, laboratory markers, ultrasound findings, and serum ferritin levels were assessed, with comparative analysis between patients with and without splenectomy. Results: Hepatomegaly was observed in 91% of patients with GD type I. Despite liver enlargement, only 2.4% of patients demonstrated elevated transaminases, and no hyperbilirubinemia was reported, indicating preserved hepatic function. Additional liver pathology (steatosis, fibrosis, hemangiomatosis, cysts, or cholecystitis) was present in 45% of cases. A strong correlation was identified between the degree of hepatomegaly and elevated ferritin levels. Cholelithiasis was significantly more prevalent among splenectomized patients (42% vs. 17%; OR = 4.25; p = 0.014). Conclusion: Liver involvement in GD type I is common, multifaceted, and may not always be reflected in standard liver function tests. While hepatocellular function is typically preserved, structural liver abnormalities are frequently observed. Serum ferritin may serve as an auxiliary marker of disease activity. The results emphasize the need for comprehensive hepatic monitoring in GD and support the potential value of neonatal screening for early detection and management.

The is article is devoted to the manifestation of hepatomegaly syndrome in a rare metabolic disorder – type 1 Gaucher disease (GD). The objective: to evaluate clinical signs and potential diagnostic role of hepatomegaly syndrome in patients with type 1 GD in Ukraine. As well as to develop and propose the diagnostic algorithm for GD, taking into account the hepatomegaly syndrome as a key clinical sign. Materials and methods. A retrospective clinical study was conducted involving 82 patients with type 1 GD diagnosed in Ukraine over a 21-year period (2002–2023). The patients underwent complex clinical examination of the manifestations of the disease, which included a detailed medical history collection, physical examination, as well as instrumental and laboratory evaluation of liver and spleen. Ultrasound examination was used to assess the sizes and structure of liver, while functional markers were evaluated through serum transaminase and ferritin levels. Results. Clinical symptoms and diagnostic findings were analyzed in 82 patients with confirmed type 1 GD in Ukraine. Comprehensive examination revealed hepatomegaly in 47 patients (57.32%) at the time of diagnosis, often in combination with other clinical signs. According to the clinical observations in Ukraine, liver enlargement was not depended on the presence of splenomegaly or history of splenectomy. Isolated hepatomegaly as an initial disease manifestation is rare (7.3%), but in some cases it is the only symptom at the time of diagnosis. Subsequently, most of these patients progress to classical hepatosplenomegaly accompanied by hematological disorders. Ferritin level was found to correlate with the degree of hepatomegaly, showing statistically significant elevations in patients with liver enlargement exceeding 1.25 times (odds ratio (OR) 30.17; p = 0.002) and especially ad increase of more than 1.5 times (OR 89.28; p = 0.0041). Such elevated ferritin level was present in only 54–67% of patients with hepatomegaly, thus this marker cannot be considered a universal diagnostic indicator of liver damage in GD. Conclusions. Hepatomegaly is a common clinical manifestation of type I GD. It was identified in 91% of patients in Ukraine at the time of diagnosis confirmation. The severity of hepatomegaly did not depend on whether splenectomy had been performed. Isolated hepatomegaly was uncommon (7.3%) and, in some cases, it was the only clinical symptom. A significant correlation was found between ferritin level and the degree of hepatomegaly. Based on the findings, a diagnostic algorithm was proposed that may be useful for early disease identification.

Background: Neuronopathic Gaucher disease (GD types II and III) represents rare and severe phenotypes of glucocerebrosidase deficiency, characterized by neurological involvement and variable systemic manifestations. Data on clinical presentation and genotype–phenotype patterns in Eastern European populations remain limited. Methods: We conducted a retrospective cohort study of 92 patients with confirmed Gaucher disease followed at the National Children’s Specialized Hospital “Okhmatdyt” (Kyiv, Ukraine) between 2001 and 2024. Among them, 4 patients had type II and 6 had type III GD. Diagnosis was established by measurement of leukocyte β-glucocerebrosidase activity and molecular analysis of the GBA1 gene. Clinical, laboratory, and imaging data were analyzed descriptively. Results: Type II GD presented in early infancy, with symptom onset from birth to 5 months of age (mean age at onset 2.8 ± 2.6 months) and was diagnosed between 5 and 9 months of age (mean 7.0 ± 2.3 months). Initial manifestations included cytopenias, splenomegaly, failure to thrive, and ichthyosiform dermatitis. Hepatomegaly was uncommon at onset, but hepatosplenomegaly was documented in all patients at diagnosis, followed by rapid neurological regression and death by 14 months of age. Type III GD had a mean age at onset of 2.3 ± 1.66 years and a mean age at diagnosis of 13.8 ± 16.87 years, reflecting substantial diagnostic delay. Oculomotor abnormalities were the most frequent presenting manifestations (83%). At diagnosis, all patients exhibited hepatosplenomegaly, cytopenias, and neurological involvement, while liver function remained preserved. Across both phenotypes, GBA1 variant combinations included genotypes predicted to result in very low or absent residual glucocerebrosidase activity, as well as genotypes predicted to retain some residual activity. Severe clinical courses were observed even in patients whose genotypes were predicted to retain residual enzyme activity, suggesting that predicted residual activity alone does not reliably explain clinical severity. Conclusions: In this Ukrainian cohort, neuronopathic GD demonstrated distinct clinical trajectories, with rapidly progressive infantile disease in type II and heterogeneous presentation with marked diagnostic delay in type III. Hepatosplenomegaly was a common systemic feature during disease progression, but should not be interpreted as an isolated stratifying sign. Its presence, particularly in combination with early or progressive neurological manifestations, should raise suspicion of neuronopathic GD.

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.

Summary. The article is devoted to a topical issue in pediatrics - hepatomegaly syndrome in a rare metabolic pathology - mucopolysaccharidosis type I. Goal. To study the possibilities of early diagnosis of hepatomegaly syndrome as one of the most important clinical manifestations of type I MPS and to determine early diagnostic criteria for the course of the disease. Materials and methods. Retrospective clinical study of 24 children with type I mucopolysaccharidosis who were diagnosed in Ukraine for 17 years (from 2004 to 2021). Patients underwent a complete comprehensive examination of the manifestations of the disease and determined the activity of the enzyme a-L-iduronidase in the lysosomes of leukocytes using a biochemical method, the study of the level of excretion of glycosaminoglycans in the urine. Results. Clinical symptoms and examination results in 24 children diagnosed with type I mucopolysaccharidosis in Ukraine were analyzed. The conducted comprehensive examination revealed a significant frequency of hepatomegaly syndrome among patients of this study. Its combination with other clinical symptoms. Hepatomegaly syndrome in children was found in 79 %, which was combined with other clinical symptoms of mucopolysaccharidosis, but never was the cause of the initial examination of the patient and the key symptom. Hepatomegaly was most often observed in the symptom complex with contractures and stiffness of the joints, curvature of the spine, lesions of the valvular apparatus of the heart and umbilical hernias. In contrast to the previously described studies, only 20% of hepatomegaly syndrome was combined with splenomegaly. Biochemical studies did not reveal liver dysfunction. There was also a direct relationship between the degree of hepatomegaly and the severity of glycosaminoglycan secretion. Conclusions. Liver enlargement syndrome in many childhood diseases, including orphan metabolic diseases, remains an underestimated diagnostic criterion. Detection of hepatomegaly syndrome can direct the diagnostic search of the practitioner to exclude hereditary metabolic disorders, including mucopolysaccharidosis. Early detection of such a complex and severe disease in children as mucopolysaccharidosis type I will allow to start treatment in time and prevent disability and early death.

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.