Year: 2025
Type: article
Study design: Observational Study
Abstract: 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.
Source: Medical science of Uzbekistan
Authors: Kamola Yaxyayeva, Fotima Xoltayeva
Institution: Tashkent Medical Academy
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4409605579