Ischemic stroke in an adult with glycogen storage disease type I

Goulart, J; Yoo, Jongman; Kirchoff-Torres, Kathryn F.; Delman, Bradley N.; Tuhrim, Stanley

doi:10.1016/j.jocn.2010.03.026

Cited by 6 publications

(2 citation statements)

References 8 publications

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“…Impaired platelet function leading due to von Willebrand antigen deficiency and anti-oxidant properties of uric acid have also been proposed as being protective (Muhlhausen et al 2005). Despite this, there have been reports of atherosclerosis and thrombo-embolic events and these may become more prevalent as patients with severe GSD get older (Rake et al 2002a, b;Goulart et al 2010). Reports of some patients developing diabetes mellitus are likely to make these risks greater (Spiegel et al 2005).…”

Section: Macronutrient Intakementioning

confidence: 99%

Dietary dilemmas in the management of glycogen storage disease type I

Bhattacharya

2011

J of Inher Metab Disea

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Over the last 50 years, understanding the biochemical bases of glycogen storage disease type I has led to vastly improved survival and health outcomes but the management still centres around an extremely intensive dietary regimen. Patients' metabolic profiles are really determined by the whole of the diet and it can be very difficult to adjust therapy accordingly. In an iso-energetic diet with reference total energy intake, high carbohydrate intake could compromise other macro- and micro-nutrients; if carbohydrates are not restricted then total energy intake is excessive. The quality of the macronutrient such as the glycemic index of carbohydrate, the type of sugar and the proportion of medium-chain triglyceride and essential fatty acids also has a bearing on an individual's long-term metabolic control with potential clinical correlates. These factors as well as the different requirements between individuals and within individuals as they get older mean that the management of glycogen storage disease type I is particularly fraught. Regular clinical and dietary review is imperative as patients grow, ensuring adequate but not excessive low glycaemic index carbohydrate intake, appropriate dynamic biochemical profiles and suitable age appropriate eating patterns. Without diligent management, and education that empowers the patient, these individuals can struggle in adult life.

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Section: Macronutrient Intakementioning

confidence: 99%

Dietary dilemmas in the management of glycogen storage disease type I

Bhattacharya

2011

J of Inher Metab Disea

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“…A series of studies show the connection between high cholesterol levels in children and adolescents in the general population and the risk of atherosclerosis and CV complications in adult life [22] . However, despite the fact of the existence of dyslipidemia in GSD has been known for several decades, the need for medical treatment of lipid disorders in GSD is still disputable.…”

Section: Introductionmentioning

confidence: 99%

Lipid profile of children with glycogen storage disease

Строкова¹,

Pavlovskaya²,

Zubovich³

et al. 2019

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Aim: To determine the lipid profile patterns in children with different types of glycogen storage disease (GSD). Methods: The study included 62 children with GSD (43 boys, 19 girls), mean age 8.29 years. All patients underwent anthropometry, assessment of physical development, lipid profile analysis. Results: The children were divided into three groups depending on the type of GSD. Nineteen children (31%) had type I GSD (Group 1), 16 (26%)-type III (Group 2) and 27 (43%)-types VI and IX (Group 3). Dyslipidemia of varying severity was more specific to patients with type I and III GSD. Higher levels of triglycerides were associated with type I GSD, while higher levels of LDL cholesterol were common to type III GSD (P < 0.05) No changes in the lipid profile were observed in 18 (29%): one with type I, 4 with type III, and 13 with types VI and IX. Conclusion: Lipid metabolism disorders were detected in 71% of children with GSD, especially with types I and III. The elevated levels of total cholesterol and LDL cholesterol are associated with the early progression of atherosclerosis and an increased cardiovascular risk in the general population. But there is a lack of evidence of a link between lipid metabolism disorders detected in childhood and an increased risk of cardiovascular diseases in patients with GSDs. More studies needed to investigate this issue.

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