Guidelines for management of glycogen storage disease type I—European study on glycogen storage disease type I (ESGSD I)

Rake, Jan Peter; Visser, Gepke; Labrune, Philippe; Leonard, James V.; Ullrich, Kurt; Smit, Gerrit

doi:10.1007/bf02680007

Cited by 170 publications

(176 citation statements)

References 41 publications

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“…All patients were in a steady state concerning metabolic control. In 2000, the European Study on Glycogen Storage Disease type I was completed, and biochemical targets were defined for the management of GSD I (19). According to these guidelines, patients are considered to have optimal metabolic control when blood glucoses are Ͼ3.5 mmol/L, urine lactate/creatinine ratios are Ͻ0.06 mmol/mmol, triglycerides are Ͻ6.0 mmol/L, and uric acid concentrations are Ͻ450 mol/L.…”

Section: Measurement Of Laboratory and Clinical Datamentioning

confidence: 99%

Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

Martens

Rake

Navis

et al. 2009

Clinical Journal of the American Society of Nephrology

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Background and objectives: Renal failure is a major complication in glycogen storage disease type I (GSD I). We studied the natural course of renal function in GSD I patients. We studied differences between patients in optimal and nonoptimal metabolic control and possible renoprotective effects of angiotensin converting enzyme inhibition.Design, setting, participants, & measurements: Thirty-nine GSD I patients that visited our clinic were studied. GFR and effective renal plasma flow (ERPF) were measured by means of I 125 iothalamate and I 131 hippuran clearance and corrected for body surface area. Microalbuminuria was defined as >2.5 mg albumin/mmol creatinine and proteinuria as >0.2 g protein per liter. Optimal metabolic control was present when blood glucoses were >3.5 mmol/L, urine lactate/creatinine ratios <0.06 mmol/mmol, triglycerides <6.0 mmol/L, and uric acid concentrations <450 mol/L.Results: Quadratic regression analysis showed a biphasic pattern in the course of GFR and ERPF related to age. Microalbuminuria was observed significantly less frequently in the patients with optimal metabolic control compared with the patients with nonoptimal metabolic control. A significant decrease in GFR was observed after starting ACE inhibition.Conclusions: This study describes a biphasic pattern of the natural course of GFR and ERPF in GSD I patients, followed by the development of microalbuminuria and proteinuria. Optimal metabolic control has a renoprotective effect on the development of microalbuminuria and proteinuria in GSD I patients. Treatment with ACE inhibitors significantly decreases the GFR, especially in GSD I patients with glomerular hyperfiltration.

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Section: Measurement Of Laboratory and Clinical Datamentioning

confidence: 99%

Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

Martens

Rake

Navis

et al. 2009

Clinical Journal of the American Society of Nephrology

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“…Native starch and its derivatives are widely used in food production and other branches of industry. The widespread application of starches as a group is due to their availability, cost, specific physico-chemical properties (Leszczyński 2004) and, recently, to their nutritional characteristics as slow digestibility (Rake et al 2002). For nutritional purposes, starch has been in fact classified according to their rate of digestion into rapidly digestible starch (RDS), slowly digestible starch (SDS), and resistant starch (RS) (Englyst et al 1992).…”

Section: Introductionmentioning

confidence: 99%

Characterisation, in vitro digestibility and expected glycemic index of commercial starches as uncooked ingredients

et al. 2016

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In this study native starches as ingredients (corn, rice, wheat, tapioca and potato) were characterized for microstructure, physicochemical, functional and thermal properties, in vitro digestibility and glycemic index. There was a significant variation in the granule shape and size distribution of the starches. Particle size monomodal (corn, tapioca, potato) and bimodal (rice, wheat) distribution was observed amongst the starches. The potato starch showed the biggest size granules while the rice showed the smallest. The examined properties and nutritional characteristics of starches were significantly different. Thermal properties were studied using Differential Scanning Calorimeter (DSC). DSC results showed that the transition temperatures (58.8-78.7°C) and enthalpies of gelatinization (2.3-8.2 J/ g) of the starches appeared to be greatly influenced by microstructure and chemical composition (e.g. resistant starch). Nutritional properties such as slowly digestible starch and expected glycemic index values followed the order: rice [ wheat [ tapioca [ corn [ potato. In particular, the highest resistant starch was recorded for potato starch.

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“…По опыту ряда авторов, лабораторные показатели функции печени находятся в пределах нормы, несмотря на наличие аденомы печени и массивную гепатомега-лию, а альфа-фетапротеин повышается не во всех случаях злокачественной трансформации [3,17,26]. Однажды обнаруженную аденому печени реко-мендовано наблюдать УЗИ органов брюшной поло-сти каждые 3-6 месяцев [41,42].…”

Section: гликогеноз I типаunclassified

Liver Transplantation in Children With Glycogen Storage Diseases: Risk Assessment and Necessity of This Procedure

Готье¹,

Цирульникова²,

Мнацаканян³

et al. 2014

Russian Journal of Transplantology and Artificial Organs

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1 ФГБУ «Федеральный научный центр трансплантологии и искусственных органов им. академика В.И. Шумакова» Минздрава России, г. Москва 2 ГБОУ ВПО «Первый МГМУ имени И.М. Сеченова», кафедра трансплантологии и искусственных органов, г. Москва Болезни накопления гликогена I, III, IV типа являются врожденными заболеваниями, которые обычно ведут к тяжелому поражению печени. Трансплантация печени является терапией выбора при данных патологиях. В то время как пересадка печени нивелирует первичный дефект фермента в печени, внепе-ченочные проявления гликогенозов порой осложняют посттрансплантационный период. В статье опи-саны данные англоязычной литературы, согласно которой 42 детям до 18 лет по поводу осложнений гликогенозов были проведены трансплантации печени (18 пациентам -в связи с гликогенозом Ia типа, шестерым -Ib, одному ребенку -III типа, 17 пациентам -по поводу гликогеноза IV типа). В работе представлено описание трансплантации печени ребенку по поводу гликогеноза Ia типа, проведен анализ посттрансплантационного периода жизни реципиента. Glycogen storage diseases I, III and IV types are congenital disorders, which are commonly associated with severe liver diseases. Liver transplantation has been proposed as a treatment of choise for these disorders. While liver transplantation corrects the primary hepatic enzyme defect, the extrahepatic manifestations of glycogenoses often complicate the posttransplant management. Upon review of the English-language literature, 42 children under 18 years old were discovered to have undergone liver transplantation for complications associated with glycogenoses (18 patients with Ia type, 6 -with Ib type, one patient -with III type, 17 -with IV type). This article represents the pediatric liver transplantation for complications associated with glycogenosis Ia type, analyzed posttransplant period in this recipient.

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Guidelines for management of glycogen storage disease type I—European study on glycogen storage disease type I (ESGSD I)

Abstract: In this paper guidelines for the management of GSD I are presented.

Cited by 170 publications

References 41 publications

Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

Characterisation, in vitro digestibility and expected glycemic index of commercial starches as uncooked ingredients

Liver Transplantation in Children With Glycogen Storage Diseases: Risk Assessment and Necessity of This Procedure

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