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Clinical case of congenital Sucrase-isomaltase deficiency

https://doi.org/10.25557/2073-7998.2022.10.9-11

Abstract

Hereditary sucrase-isomaltase deficiency is a type of hereditary disaccharidase intolerance. Homozygous forms of this pathology occur with a frequency of 0.02% in the population. The article describes a clinical case of this disease, identified by doctors in the Chelyabinsk region. A complete history, stages of the patient’s diagnosis, as well as the treatment used are presented.

About the Author

A. I. Pobedinskaya
Chelyabinsk Regional Children’s Clinical Hospital
Russian Federation


References

1. https://omim.org/entry/222900?search=SI&highlight=si (дата обращения 14.06.2022).

2. https://allergyfree.ru/category/info/sucrose-izomaltaznaya_failure.html (дата обращения 17.07.2022).

3. Lloyd M.L., Olsen W.A. A study of the molecular pathology of sucrase-isomaltase deficiency. A defect in the intracellular processing of the enzyme. N Engl J Med. 1987 Feb 19;316(8):438-42. doi: 10.1056/NEJM198702193160804.


Review

For citations:


Pobedinskaya A.I. Clinical case of congenital Sucrase-isomaltase deficiency. Medical Genetics. 2022;21(10):9-11. (In Russ.) https://doi.org/10.25557/2073-7998.2022.10.9-11

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ISSN 2073-7998 (Print)