Current Clinical Guidelines for the Management of Patients with Glycogen Storage Disease-Reference-Cited by-同舟云学术

Current Clinical Guidelines for the Management of Patients with Glycogen Storage Disease

Published:2024-07-04 Issue:3 Volume:21 Page:263-288
ISSN:2500-3089
Container-title:Pediatric pharmacology
language:
Short-container-title:Pediatr. farmakol.

Author:

Averkina Natalia A.¹,Bagaeva Madlena E.²,Baranov Aleksander A.³^ORCID,Vashakmadze Nato D.⁴^ORCID,Vishneva Elena A.⁴^ORCID,Gundobina Olga S.⁵^ORCID,Zhurkova Nataliya V.⁵^ORCID,Kaitukova Elena V.⁴^ORCID,Komarova Elena V.⁴^ORCID,Margieva Tea V.⁶^ORCID,Namazova-Baranova Leyla S.⁴^ORCID,Novikova Valeria P.⁷,Petryaykina Elena E.⁸^ORCID,Platonova Mariya M.⁵^ORCID,Potapov Aleksander S.⁹,Smirnova Olga Ya.⁵^ORCID,Strokova Tatiana V.²,Surkov Andrey N.⁴^ORCID,Taran Nataliya N.²,Fedoseenko Marina V.⁴^ORCID,Semenova Nataliya A.¹⁰,Anisimova Inga V.¹⁰,Repina Svetlana A.¹⁰,Subbotin Dmitriy M.¹⁰,Sviridova Valeria V.¹⁰^ORCID,Havkin Anatoliy I.¹¹^ORCID,Yablokova Ekaterina A.¹¹^ORCID,Volynets Galina V.¹²^ORCID,Sadovnikova Irina V.¹³^ORCID,Tumanova Elena L.¹⁴^ORCID

Affiliation:

1. Russian Research Institute of Health

2. Federal Research Centre of Nutrition and Biotechnology

3. Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov Moscow Medical Academy

4. Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University

5. Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery

6. I.M. Sechenov Moscow Medical Academy

7. Saint-Petersburg State Pediatric Medical University

8. Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Russian Children’s Clinical Hospital of Pirogov Russian National Research Medical University; Peoples’ Friendship University of Russia

9. I.M. Sechenov Moscow Medical Academy; Scientific Center of Children’s Health

10. N.P. Bochkov Research Centre for Medical Genetics

11. Research Clinical Institute of Childhood

12. Yu.E. Veltishchev Research Clinical Institute of Pediatrics

13. Privolzhsky Research Medical University

14. Pirogov Russian National Research Medical University

Abstract

Glycogen storage disease refers to hereditary pathologies of carbohydrate metabolism, its cause is mutations of various genes encoding enzymes responsible for the synthesis and breakdown of glycogen. Due to enzyme defects, excessive glycogen deposition occurs in cells of various tissues, mainly in the liver and muscles. The authors present modern epidemiological data and features of the etiopathogenesis of glycogen storage disease, and give clinical characteristics of various types of this nosology. In accordance with the developed clinical guidelines, information is provided on laboratory, instrumental and morphological signs of glycogen storage disease in children, as well as on methods of treatment of glycogen storage disease. Due to the variety of clinical forms of glycogenosis, the article provides up-to-date information on three types of pathology that occur with predominant liver damage.

Publisher

Paediatrician Publishers LLC

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