Relevance. Galactosemia is a rare inherited disease that occurs as a result of a genetic mutation blocking the enzymes involved in galactose metabolism. Clinical manifestations are directly related to the accumulation of intermediate metabolites in the body and impaired function of internal organ cells. The aims and objectives of the study: to study the frequency and clinical features of galactosemia in children. Materials and methods of the study. To solve the set tasks, we conducted a study of clinical, anamnestic and laboratory and instrumental examination parameters in children with galactosemia. Research results. The study revealed that the frequency of galactosemia health of the mother, her obstetric and gynecological history, the peculiarities of the course of pregnancy and childbirth do not play a significant role in the development of galactosemia in newborns. Conclusion. We have determined that the age, health of the mother, her obstetric and gynecological history, the peculiarities of the course of pregnancy and childbirth do not play a significant role in the development of galactosemia in newborns.
| Mualliflar | Yaxyayeva, Kamola, Xoltayeva, Fotima, Яхяева, Камола, Холтаева, Фотима, Yaxyayeva, Kamola, Xoltayeva, Fotima |
|---|---|
| Jurnal | Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi |
| Nashr sanasi | 2025-04-30 |
| Jild | 4 |
| Son | 2 |
| Betlar | 51-53 |
| Til | Ingliz |
| DOI | 10.56121/2181-3612-2025-2-51-53 |
DOI: 10.56121/2181-3612-2025-2-51-53 · Maqolaning asl sahifasi
galactosemia, newborns, clinical features, complications, галактоземия, новорожденные, клинические особенности, осложнения, galaktozemiya, yangi tug’ilgan chaqaloqlar, klinik xususiyatlar, asoratlar
The aim of the study was to evaluate the clinical significance of zinc deficiency in children with atopic dermatitis and its correction. Materials and Methods: The study was conducted at the multidisciplinary clinic of…
Relevance. Respiratory syncytial infection is the most common cause of lower respiratory tract damage in children under 5 years of age. Respiratory syncytial virus infection is the most common cause of severe lower…
Atopic dermatitis is a multifactorial disease caused by the combined effects of genetic changes and trigger mechanisms in the body. It is known that the etiopathogenetic "basis" of multifactorial diseases is the…
Relevance. Community-acquired pneumonia (CAP) with complications is typical for respiratory diseases and occurs in up to 20% of children. In addition to respiratory failure, children with CAP often experience…
The most effective method of treating allergic diseases is allergen-specific immunotherapy (ASIT), which consists in introducing small doses of the antigen responsible for the development of the disease into patients…
Relevance. Tubulopathies are tubular kidney diseases characterized by various disorders of the tubular transport of electrolytes, minerals, water and organic substances, hereditary (primary tubulopathies) or acquired…
This article is devoted to such a topical problem of social medicine as asthma and allergy in children, which has important theoretical and practical significance. The aim of the work is to evaluate the diagnostic…
Research Objective: To determine the role of pro-inflammatory cytokines in the early diagnosis of juvenile idiopathic arthritis (JIA) and kidney involvement. Materials and Methods: The study included data on patients…
Objective: To evaluate the impact of allele and genotype variants of the Pro72Arg (rs1042522) polymorphism of the TP53 gene on the development of myeloproliferative neoplasms (MPNs). Materials and methods: The study…
Relevance. Systemic lupus erythematosus is a common disease among rheumatic diseases of childhood. The frequency of the disease has a steady upward trend due to changes in the environment and eating disorders. The…
Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi — barcha maqolalar