Glycogenosis type IX in a 9-year-old child
Nina V. Bolotova,
Andrey P. Averyanov,
Natalia Yu. Filina,
Ekaterina Yu. Zaharova,
Maria A. Melikyan,
Olesya A. Velikotskaya,
Tatyana V. Strokova,
Yulia V. Paltseva https://doi.org/10.14341/probl2017632139-142
Abstract
Since the age of 1 year, a child presented with hypoglycemic conditions accompanied by ketosis as well as periodic hyperglycemia, for which reason he was hospitalized to the Pediatric Endocrinology Department of the Mirotvortsev Saratov Clinical Hospital. At the hospital, the child underwent a comprehensive examination that excluded diseases such as hyperinsulinism and diabetes mellitus. In the Laboratory of Hereditary Diseases of Metabolism of the Medical Genetics Research Center, a hemizygotic mutation in the PHKA2 gene (glycogenosis type IX) was detected. The mother was also detected with the heterozygous mutation c.226G>A (p.E76K in the PHKA2 gene). Based on the results of the genetic examination of the child and mother, the patient was finally diagnosed with glycogenosis type IX. The patient was put on an individualized protein diet avoiding edible sugar and fatty foods; corn starch (30 g every 6 h and overnight) was recommended. Strict adherence to the diet resulted in less frequent seizures and decreased severity of episodes.
About the Authors
Nina V. BolotovaSaratov State Medical University named after V. I. Razumovsky
Russian Federation
MD, PhD, Professor
Andrey P. Averyanov
Saratov State Medical University named after V. I. Razumovsky
Russian Federation
MD, D.Sc., Professor
Natalia Yu. Filina
Saratov State Medical University named after V. I. Razumovsky
Russian Federation
MD, D.Sc., Docent
Ekaterina Yu. Zaharova
Research Centre for Medical Genetics
Russian Federation
MD, D.Sc., Professor
Maria A. Melikyan
Endocrinology Research Centre
Russian Federation
MD, PhD, senior researcher
Olesya A. Velikotskaya
Saratov State Medical University named after V. I. Razumovsky
Russian Federation
Tatyana V. Strokova
Federal Research Center of Nutrition and Biotechnology
Russian Federation
MD, PhD, Professor
Yulia V. Paltseva
Saratov State Medical University named after V. I. Razumovsky
Russian Federation
MD, PhD
References
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For citations:
Bolotova N.V., Averyanov A.P., Filina N.Yu., Zaharova E.Yu., Melikyan M.A., Velikotskaya O.A., Strokova T.V., Paltseva Yu.V. Glycogenosis type IX in a 9-year-old child. Problems of Endocrinology. 2017;63(2):139-142. https://doi.org/10.14341/probl2017632139-142
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