• Glycogen storage disease type І: peculiarities of clinical course, diagnostics and nutritive support on modern stage
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Glycogen storage disease type І: peculiarities of clinical course, diagnostics and nutritive support on modern stage

Modern Pediatrics.Ukraine.2020.3(107):67-76; doi 10.15574/SP.2020.107.67
Horobets A. O.1, Berezenko V. S.2, Kozinkevich G. E.1
1Bogomolets National Medical University, Kyiv, Ukraine
2SI "Institute of Pediatrics, Obstetrics and Gynecology named of academician O.M. Lukyanova NAMS of Ukraine", Kyiv

For citation: Horobets AO, Berezenko VS, Kozinkevich GE. (2020). Glycogen storage disease type І: peculiarities of clinical course, diagnostics and nutritive support on modern stage. Modern Pediatrics. Ukraine. 3(107): 6776; doi 10.15574/SP.2020.107.67
Article received: Dec 18, 2019. Accepted for publication: Apr 11, 2020.

Modern scientific information about glycogen storage disease type I clinical course peculiarities, diagnostics and nutritive management is presented in the article. Glycogen storage disease, or glycogenosis, is an orphan pathology reasoned by glycogen metabolism disorders and its deposition in liver, kidney, intestines and other organs. A special attention is attracted to the glycogen storage diseases actuality in Ukraine caused by the absence of governmental guidelines for treatment and rehabilitation for the most types of the disease. Information about spreading of the disease, its etiology, mechanisms of the development and related pathophysiological violations in different organs and systems of the child's organism is also presented. Clinical picture is described dependently on the glycogen storage disease type (Іа or Іb ones) and the age of manifestation of symptoms. Attention is also attracted to hypoglycemic conditions — typical complication for infants — and to their potentially unfavorable for further physical and psycho-neurological development sequels. Basic aspects of clinical and additive laboratory and instrumental diagnostics and differential diagnostics with disorders accompanied by similar clinical features are given in the article as well. A special attention is accented on nutrition of those patients with glycogen storage disease type I as a basic method of treatment which may both improve quality of patients' life and its longevity and lead in complete resolution of pathological changes in organs and systems. In this part of the article quantitative and qualitative characteristics of feeding ration and its age-dependent peculiarities of children sick with glycogenosis type I are given. Attention is paid to the necessity of corn raw starch prescription, recommendations about calculation of its necessary quantity and regimen of use in different ages are given. Necessity of uninterrupted night feedings in children of the first year of life — an important method of hypoglycemia and its severe complications prevention is explained. Moreover, recommendations of glycemia and lactatemia control are presented. Peculiarities of one of the typical for the disease concomitant disorders as dyslipidemia and such prolonged consequences as osteoporosis and gout are discussed. At the end of the article recommendations which can potentially contribute to the improvement of quality of life of children with glycogenosis type I are described.
Key words: children, glycogen storage disease, glycogenosis, nutritive support, orphan diseases.

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