Preview

Medical Genetics

Advanced search
Open Access Open Access  Restricted Access Subscription Access

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
Россия


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

Views: 1294

JATS XML

ISSN 2073-7998 (Print)