AUSTRALIAN JOURNAL OF BIOMEDICAL RESEARCH
Case Report
Apr 23, 2026 2 3

Galactosemia Type I in a Child with Heterozygous Mutations (Own Observation): A Clinical Case

Natalia Fedina 1 * ,
Andrey Dmitriev 1,
Roman Gudkov 1,
Valeria Petrova 1
1 Department of Children's Diseases with a Course in Hospital Pediatrics, Ryazan State Medical University Named After Academician I.P. Pavlov, Ryazan, Russian Federation* Corresponding Author
Australian Journal of Biomedical Research, 2(2), 2026, aubm018, https://doi.org/10.63946/aubiomed/18461
Publication date: Apr 23, 2026
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ABSTRACT

Galactosemia is a rare metabolic disease, and late diagnosis can lead to severe liver injury. We present a clinical case of galactosemia type I that manifested during the late neonatal period with vomiting, cholestatic liver injury, coagulopathy with hemorrhagic syndrome, and poor weight gain. Differential diagnoses included necrotizing enterocolitis and intestinal obstruction. The residual activity of the GALT enzyme corresponded to the biochemical variant but did not match the severity of the clinical presentation. On a lactose-free formula, the child's condition improved. Genetic testing identified two pathogenic heterozygous mutations in exons 3 and 6 of the GALT gene. Subsequent observation revealed delayed motor development by the end of the first year of life.

KEYWORDS

Galactosemia Metabolism Children Screening Mutation Diet Therapy

CITATION (Vancouver)

Fedina N, Dmitriev A, Gudkov R, Petrova V. Galactosemia Type I in a Child with Heterozygous Mutations (Own Observation): A Clinical Case. Australian Journal of Biomedical Research. 2026;2(2):aubm018. https://doi.org/10.63946/aubiomed/18461
APA
Fedina, N., Dmitriev, A., Gudkov, R., & Petrova, V. (2026). Galactosemia Type I in a Child with Heterozygous Mutations (Own Observation): A Clinical Case. Australian Journal of Biomedical Research, 2(2), aubm018. https://doi.org/10.63946/aubiomed/18461
Harvard
Fedina, N., Dmitriev, A., Gudkov, R., and Petrova, V. (2026). Galactosemia Type I in a Child with Heterozygous Mutations (Own Observation): A Clinical Case. Australian Journal of Biomedical Research, 2(2), aubm018. https://doi.org/10.63946/aubiomed/18461
AMA
Fedina N, Dmitriev A, Gudkov R, Petrova V. Galactosemia Type I in a Child with Heterozygous Mutations (Own Observation): A Clinical Case. Australian Journal of Biomedical Research. 2026;2(2), aubm018. https://doi.org/10.63946/aubiomed/18461
Chicago
Fedina, Natalia, Andrey Dmitriev, Roman Gudkov, and Valeria Petrova. "Galactosemia Type I in a Child with Heterozygous Mutations (Own Observation): A Clinical Case". Australian Journal of Biomedical Research 2026 2 no. 2 (2026): aubm018. https://doi.org/10.63946/aubiomed/18461
MLA
Fedina, Natalia et al. "Galactosemia Type I in a Child with Heterozygous Mutations (Own Observation): A Clinical Case". Australian Journal of Biomedical Research, vol. 2, no. 2, 2026, aubm018. https://doi.org/10.63946/aubiomed/18461

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