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Kurt Ullrich - One of the best experts on this subject based on the ideXlab platform.
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Radical trapping in Glycogen Storage Disease 1a.
European journal of pediatrics, 2002Co-Authors: Birgit Wittenstein, Kurt Ullrich, Marcus Klein, Barbara Finckh, Alfried KohlschütterAbstract:Oxidative mechanisms involving lipid peroxidation in the subendothelium of the arterial vessel wall play a key role in atherogenesis. Despite severe hyperlipidaemia, patients with Glycogen Storage Disease type 1a (GSD1a) do not develop premature atherosclerosis. Therefore, we analysed parameters of antioxidative defence and oxidative stress in plasma and serum of patients with GSD1a ( n=17) and compared them with those of patients with type 1 diabetes mellitus ( n=17), familial hypercholesterolaemia ( n=18) and healthy controls ( n=20). We measured the total radical trapping ability parameter (TRAP), single plasma antioxidants (sulfhydryl-groups, uric acid, vitamin C, alpha-tocopherol, coenzyme-Q10), markers of lipid peroxidation, lipoprotein (a) and homocysteine. Patients with GSD1a showed an elevated TRAP ( P<0.01) compared to the three other groups. This can mainly be attributed to elevated uric acid levels ( P<0.05 versus control). Lipoprotein (a) was significantly lower in the GSD1a group compared to the three other groups ( P<0.05). Patients with Glycogen Storage Disease type 1a show an increased antioxidative defence in plasma which may protect them against lipid peroxidation and thus against premature atherosclerosis. Our finding of low lipoprotein(a) levels in this small group of patients warrants further investigation in a greater number of patients before assessing its role in atherogenesis in Glycogen Storage Disease type 1a.
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Consensus guidelines for management of Glycogen Storage Disease type 1b - European Study on Glycogen Storage Disease Type 1
European Journal of Pediatrics, 2002Co-Authors: Gepke Visser, Jan Rake, Philippe Labrune, James Leonard, Shimon Moses, Kurt Ullrich, Udo Wendel, Peter SmitAbstract:Life expectancy in Glycogen Storage Disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on data from the European Study on Glycogen Storage Disease Type 1, discussions within this study group together with those at the International SHS Symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome', Fulda, Germany (2000) and on data from the literature, a series of guidelines were drawn up. Conclusion: the following guidelines for the management of patients with Glycogen Storage Disease type 1b are in addition to those general guidelines for Glycogen Storage Disease type 1 and address specific problems related to neutropenia and neutrophil dysfunction
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Consensus guidelines for management of Glycogen Storage Disease type 1b – European Study on Glycogen Storage Disease Type 1
European Journal of Pediatrics, 2002Co-Authors: Gepke Visser, Jan Rake, Philippe Labrune, Shimon Moses, Kurt Ullrich, Udo Wendel, James V. Leonard, G. Peter A. SmitAbstract:Life expectancy in Glycogen Storage Disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on data from the European Study on Glycogen Storage Disease Type 1, discussions within this study group together with those at the International SHS Symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome', Fulda, Germany (2000) and on data from the literature, a series of guidelines were drawn up. Conclusion: the following guidelines for the management of patients with Glycogen Storage Disease type 1b are in addition to those general guidelines for Glycogen Storage Disease type 1 and address specific problems related to neutropenia and neutrophil dysfunction.
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Guidelines for management of Glycogen Storage Disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).
European Journal of Pediatrics, 2002Co-Authors: Jan Rake, Gepke Visser, Philippe Labrune, Kurt Ullrich, James V. Leonard, Gerrit SmitAbstract:Life-expectancy in Glycogen Storage Disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on the data of the European Study on Glycogen Storage Disease Type I , discussions within this study group, discussions with the participants of the international SHS-symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome' (Fulda, Germany; 22–25th November 2000) and on data from the literature, guidelines are presented concerning: (1) diagnosis, prenatal diagnosis and carrier detection; (2) (biomedical) targets; (3) recommendations for dietary treatment; (4) recommendations for pharmacological treatment; (5) metabolic derangement/intercurrent infections/emergency treatment/preparation elective surgery; and (6) management of complications (directly) related to metabolic disturbances and complications which may develop with ageing and their follow-up. Conclusion: In this paper guidelines for the management of GSD I are presented.
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Radical trapping in Glycogen Storage Disease 1a
European Journal of Pediatrics, 2002Co-Authors: Birgit Wittenstein, Kurt Ullrich, Marcus Klein, Barbara Finckh, Alfried KohlschütterAbstract:Oxidative mechanisms involving lipid peroxidation in the subendothelium of the arterial vessel wall play a key role in atherogenesis. Despite severe hyperlipidaemia, patients with Glycogen Storage Disease type 1a (GSD1a) do not develop premature atherosclerosis. Therefore, we analysed parameters of antioxidative defence and oxidative stress in plasma and serum of patients with GSD1a (n=17) and compared them with those of patients with type 1 diabetes mellitus (n=17), familial hypercholesterolaemia (n=18) and healthy controls (n=20). We measured the total radical trapping ability parameter (TRAP), single plasma antioxidants (sulfhydryl-groups, uric acid, vitamin C, alpha-tocopherol, coenzyme-Q10), markers of lipid peroxidation, lipoprotein (a) and homocysteine. Patients with GSD1a showed an elevated TRAP (P
G. Peter A. Smit - One of the best experts on this subject based on the ideXlab platform.
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Glycogen Storage Disease Type III diagnosis and management guidelines
Genetics in Medicine, 2010Co-Authors: Priya S. Kishnani, Stephanie L Austin, Deeksha S Bali, Anne Boney, Laura E Case, Wendy K Chung, Dev M Desai, Areeg El-gharbawy, Ronald Haller, G. Peter A. SmitAbstract:Purpose: Glycogen Storage Disease type III is a rare Disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of Glycogen debranching enzyme, which is a key enzyme in Glycogen degradation. Glycogen Storage Disease type III manifests a wide clinical spectrum. Individuals with Glycogen Storage Disease type III present with hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. Those with type IIIa have symptoms related to liver Disease and progressive muscle (cardiac and skeletal) involvement that varies in age of onset, rate of Disease progression, and severity. Those with type IIIb primarily have symptoms related to liver Disease. This guideline for the management of Glycogen Storage Disease type III was developed as an educational resource for health care providers to facilitate prompt and accurate diagnosis and appropriate management of patients. Methods: An international group of experts in various aspects of Glycogen Storage Disease type III met to review the evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management. Results: This management guideline specifically addresses evaluation and diagnosis across multiple organ systems (cardiovascular, gastrointestinal/nutrition, hepatic, musculoskeletal, and neuromuscular) involved in Glycogen Storage Disease type III. Conditions to consider in a differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, hepatic transplantation, and prenatal diagnosis, are addressed. Conclusions: A guideline that will facilitate the accurate diagnosis and appropriate management of individuals with Glycogen Storage Disease type III was developed. This guideline will help health care providers recognize patients with all forms of Glycogen Storage Disease type III, expedite diagnosis, and minimize stress and negative sequelae from delayed diagnosis and inappropriate management. It will also help identify gaps in scientific knowledge that exist today and suggest future studies.
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Consensus guidelines for management of Glycogen Storage Disease type 1b – European Study on Glycogen Storage Disease Type 1
European Journal of Pediatrics, 2002Co-Authors: Gepke Visser, Jan Rake, Philippe Labrune, Shimon Moses, Kurt Ullrich, Udo Wendel, James V. Leonard, G. Peter A. SmitAbstract:Life expectancy in Glycogen Storage Disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on data from the European Study on Glycogen Storage Disease Type 1, discussions within this study group together with those at the International SHS Symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome', Fulda, Germany (2000) and on data from the literature, a series of guidelines were drawn up. Conclusion: the following guidelines for the management of patients with Glycogen Storage Disease type 1b are in addition to those general guidelines for Glycogen Storage Disease type 1 and address specific problems related to neutropenia and neutrophil dysfunction.
Philippe Labrune - One of the best experts on this subject based on the ideXlab platform.
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Pulmonary arterial hypertension and type-I Glycogen-Storage Disease: the serotonin hypothesis
The European respiratory journal, 2002Co-Authors: Marc Humbert, Philippe Labrune, Olivier Sitbon, C. Le Gall, Jacques Callebert, P Hervé, Didier Samuel, Rajiv D. Machado, Richard C. Trembath, Ludovic DrouetAbstract:A case of pulmonary arterial hypertension in a patient with type-Ia Glycogen-Storage Disease, a rare autosomal recessive disorder caused by a deficiency of glucose-6-phosphatase is reported in this study. It has been suggested that the occurrence of pulmonary arterial hypertension in type-Ia Glycogen-Storage Disease could be due to an abnormal production of vasoconstrictive amines such as serotonin. To test this hypothesis, plasma serotonin concentrations were prospectively measured in 13 patients with type-Ia Glycogen-Storage Disease, one patient with severe pulmonary hypertension and type-Ia Glycogen-Storage Disease, 16 patients displaying severe pulmonary arterial hypertension, and 26 normal healthy controls. Elevated plasma serotonin concentrations were found in patients with either severe pulmonary arterial hypertension (38.8+/-7.3 nmol x L(-1)) or type-Ia Glycogen-Storage Disease (36.8+/-11.5 nmol x L(-1)), as compared with controls (8.8+/-0.6 nmol x L(-1), p
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Consensus guidelines for management of Glycogen Storage Disease type 1b - European Study on Glycogen Storage Disease Type 1
European Journal of Pediatrics, 2002Co-Authors: Gepke Visser, Jan Rake, Philippe Labrune, James Leonard, Shimon Moses, Kurt Ullrich, Udo Wendel, Peter SmitAbstract:Life expectancy in Glycogen Storage Disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on data from the European Study on Glycogen Storage Disease Type 1, discussions within this study group together with those at the International SHS Symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome', Fulda, Germany (2000) and on data from the literature, a series of guidelines were drawn up. Conclusion: the following guidelines for the management of patients with Glycogen Storage Disease type 1b are in addition to those general guidelines for Glycogen Storage Disease type 1 and address specific problems related to neutropenia and neutrophil dysfunction
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Consensus guidelines for management of Glycogen Storage Disease type 1b – European Study on Glycogen Storage Disease Type 1
European Journal of Pediatrics, 2002Co-Authors: Gepke Visser, Jan Rake, Philippe Labrune, Shimon Moses, Kurt Ullrich, Udo Wendel, James V. Leonard, G. Peter A. SmitAbstract:Life expectancy in Glycogen Storage Disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on data from the European Study on Glycogen Storage Disease Type 1, discussions within this study group together with those at the International SHS Symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome', Fulda, Germany (2000) and on data from the literature, a series of guidelines were drawn up. Conclusion: the following guidelines for the management of patients with Glycogen Storage Disease type 1b are in addition to those general guidelines for Glycogen Storage Disease type 1 and address specific problems related to neutropenia and neutrophil dysfunction.
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Guidelines for management of Glycogen Storage Disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).
European Journal of Pediatrics, 2002Co-Authors: Jan Rake, Gepke Visser, Philippe Labrune, Kurt Ullrich, James V. Leonard, Gerrit SmitAbstract:Life-expectancy in Glycogen Storage Disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on the data of the European Study on Glycogen Storage Disease Type I , discussions within this study group, discussions with the participants of the international SHS-symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome' (Fulda, Germany; 22–25th November 2000) and on data from the literature, guidelines are presented concerning: (1) diagnosis, prenatal diagnosis and carrier detection; (2) (biomedical) targets; (3) recommendations for dietary treatment; (4) recommendations for pharmacological treatment; (5) metabolic derangement/intercurrent infections/emergency treatment/preparation elective surgery; and (6) management of complications (directly) related to metabolic disturbances and complications which may develop with ageing and their follow-up. Conclusion: In this paper guidelines for the management of GSD I are presented.
Priya S. Kishnani - One of the best experts on this subject based on the ideXlab platform.
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Menorrhagia in patients with type I Glycogen Storage Disease.
Obstetrics and gynecology, 2013Co-Authors: Stephanie Austin, Areeg El-gharbawy, Vellore G. Kasturi, Andra H. James, Priya S. KishnaniAbstract:OBJECTIVE:To evaluate menorrhagia in a cohort of women with Glycogen Storage Disease type I because it appears to be an under-recognized problem in females of reproductive age.METHODS:A retrospective chart review was performed on 13 menstruating patients with Glycogen Storage Disease type I (age 23–
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Characterization and pathogenesis of anemia in Glycogen Storage Disease type Ia and Ib
Genetics in medicine : official journal of the American College of Medical Genetics, 2012Co-Authors: David Q. Wang, Stephanie Austin, Priya S. Kishnani, Laurie M. Fiske, Caroline T. Carreras, Danielle Boree, David A. WeinsteinAbstract:The aim of this study was to characterize the frequency and causes of anemia in Glycogen Storage Disease type I. Hematologic data and iron studies were available from 202 subjects (163 with Glycogen Storage Disease Ia and 39 with Glycogen Storage Disease Ib). Anemia was defined as hemoglobin concentrations less than the 5th percentile for age and gender; severe anemia was defined as presence of a hemoglobin
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Glycogen Storage Disease Type III diagnosis and management guidelines
Genetics in Medicine, 2010Co-Authors: Priya S. Kishnani, Stephanie L Austin, Deeksha S Bali, Anne Boney, Laura E Case, Wendy K Chung, Dev M Desai, Areeg El-gharbawy, Ronald Haller, G. Peter A. SmitAbstract:Purpose: Glycogen Storage Disease type III is a rare Disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of Glycogen debranching enzyme, which is a key enzyme in Glycogen degradation. Glycogen Storage Disease type III manifests a wide clinical spectrum. Individuals with Glycogen Storage Disease type III present with hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. Those with type IIIa have symptoms related to liver Disease and progressive muscle (cardiac and skeletal) involvement that varies in age of onset, rate of Disease progression, and severity. Those with type IIIb primarily have symptoms related to liver Disease. This guideline for the management of Glycogen Storage Disease type III was developed as an educational resource for health care providers to facilitate prompt and accurate diagnosis and appropriate management of patients. Methods: An international group of experts in various aspects of Glycogen Storage Disease type III met to review the evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management. Results: This management guideline specifically addresses evaluation and diagnosis across multiple organ systems (cardiovascular, gastrointestinal/nutrition, hepatic, musculoskeletal, and neuromuscular) involved in Glycogen Storage Disease type III. Conditions to consider in a differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, hepatic transplantation, and prenatal diagnosis, are addressed. Conclusions: A guideline that will facilitate the accurate diagnosis and appropriate management of individuals with Glycogen Storage Disease type III was developed. This guideline will help health care providers recognize patients with all forms of Glycogen Storage Disease type III, expedite diagnosis, and minimize stress and negative sequelae from delayed diagnosis and inappropriate management. It will also help identify gaps in scientific knowledge that exist today and suggest future studies.
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Glycogen Storage Disease type iii diagnosis and management guidelines
Genetics in Medicine, 2010Co-Authors: Priya S. Kishnani, Deeksha Bali, Stephanie Austin, Anne Boney, Laura E Case, Wendy K Chung, Dev M Desai, Areeg Elgharbawy, Ronald G Haller, Peter G A SmitAbstract:Disclaimer: ACMG standards and guidelines are designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticists should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from these standards and guidelines. Purpose: Glycogen Storage Disease type III is a rare Disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of Glycogen debranching enzyme, which is a key enzyme in Glycogen degradation. Glycogen Storage Disease type III manifests a wide clinical spectrum. Individuals with Glycogen Storage Disease type III present with hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation. Those with type IIIa have symptoms related to liver Disease and progressive muscle (cardiac and skeletal) involvement that varies in age of onset, rate of Disease progression, and severity. Those with type IIIb primarily have symptoms related to liver Disease. This guideline for the management of Glycogen Storage Disease type III was developed as an educational resource for health care providers to facilitate prompt and accurate diagnosis and appropriate management of patients. Methods: An international group of experts in various aspects of Glycogen Storage Disease type III met to review the evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management. Results: This management guideline specifically addresses evaluation and diagnosis across multiple organ systems (cardiovascular, gastrointestinal/nutrition, hepatic, musculoskeletal, and neuromuscular) involved in Glycogen Storage Disease type III. Conditions to consider in a differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, hepatic transplantation, and prenatal diagnosis, are addressed. Conclusions: A guideline that will facilitate the accurate diagnosis and appropriate management of individuals with Glycogen Storage Disease type III was developed. This guideline will help health care providers recognize patients with all forms of Glycogen Storage Disease type III, expedite diagnosis, and minimize stress and negative sequelae from delayed diagnosis and inappropriate management. It will also help identify gaps in scientific knowledge that exist today and suggest future studies. Genet Med 2010:12(7):446–463.
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Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III
Genetics in Medicine, 2010Co-Authors: Jennifer L Goldstein, Priya S. Kishnani, Stephanie L Austin, Keri Boyette, Angela Kanaly, Aravind Veerapandiyan, Catherine Rehder, Deeksha S BaliAbstract:Purpose: Glycogen Storage Disease Type III (limit dextrinosis; Cori or Forbes Disease) is an autosomal recessive disorder of Glycogen metabolism caused by deficient activity of Glycogen debranching enzyme in liver and muscle (Glycogen Storage Disease Type IIIa) or liver only (Glycogen Storage Disease Type IIIb). These two clinically distinct phenotypes are caused by mutations in the same gene (amylo-1,6-glucosidase or AGL). Although most patients with Glycogen Storage Disease Type III have private mutations, common mutations have been identified in some populations, and two specific mutations in exon 3, c.18_19delGA (p.Gln6HisfsX20) and c.16C>T (p.Gln6X), are associated with the Glycogen Storage Disease Type IIIb phenotype. Methods: To further examine the heterogeneity found in Glycogen Storage Disease Type III patients, we have sequenced the AGL gene in 34 patients with a clinically and/or biochemically confirmed diagnosis of Glycogen Storage Disease Type III. Results: We have identified 38 different mutations (25 novel and 13 previously reported) and have compiled a list of all mutations previously reported in the literature. Discussion: We conclude that Glycogen Storage Disease Type III is a highly heterogeneous disorder usually requiring full gene sequencing to identify both pathogenic mutations. The finding of at least one of the two exon 3 mutations in all of the Glycogen Storage Disease Type IIIb patients tested allows for diagnosis of this subtype without the need for a muscle biopsy.
Gepke Visser - One of the best experts on this subject based on the ideXlab platform.
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Consensus guidelines for management of Glycogen Storage Disease type 1b - European Study on Glycogen Storage Disease Type 1
European Journal of Pediatrics, 2002Co-Authors: Gepke Visser, Jan Rake, Philippe Labrune, James Leonard, Shimon Moses, Kurt Ullrich, Udo Wendel, Peter SmitAbstract:Life expectancy in Glycogen Storage Disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on data from the European Study on Glycogen Storage Disease Type 1, discussions within this study group together with those at the International SHS Symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome', Fulda, Germany (2000) and on data from the literature, a series of guidelines were drawn up. Conclusion: the following guidelines for the management of patients with Glycogen Storage Disease type 1b are in addition to those general guidelines for Glycogen Storage Disease type 1 and address specific problems related to neutropenia and neutrophil dysfunction
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Consensus guidelines for management of Glycogen Storage Disease type 1b – European Study on Glycogen Storage Disease Type 1
European Journal of Pediatrics, 2002Co-Authors: Gepke Visser, Jan Rake, Philippe Labrune, Shimon Moses, Kurt Ullrich, Udo Wendel, James V. Leonard, G. Peter A. SmitAbstract:Life expectancy in Glycogen Storage Disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on data from the European Study on Glycogen Storage Disease Type 1, discussions within this study group together with those at the International SHS Symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome', Fulda, Germany (2000) and on data from the literature, a series of guidelines were drawn up. Conclusion: the following guidelines for the management of patients with Glycogen Storage Disease type 1b are in addition to those general guidelines for Glycogen Storage Disease type 1 and address specific problems related to neutropenia and neutrophil dysfunction.
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Guidelines for management of Glycogen Storage Disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).
European Journal of Pediatrics, 2002Co-Authors: Jan Rake, Gepke Visser, Philippe Labrune, Kurt Ullrich, James V. Leonard, Gerrit SmitAbstract:Life-expectancy in Glycogen Storage Disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on the data of the European Study on Glycogen Storage Disease Type I , discussions within this study group, discussions with the participants of the international SHS-symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome' (Fulda, Germany; 22–25th November 2000) and on data from the literature, guidelines are presented concerning: (1) diagnosis, prenatal diagnosis and carrier detection; (2) (biomedical) targets; (3) recommendations for dietary treatment; (4) recommendations for pharmacological treatment; (5) metabolic derangement/intercurrent infections/emergency treatment/preparation elective surgery; and (6) management of complications (directly) related to metabolic disturbances and complications which may develop with ageing and their follow-up. Conclusion: In this paper guidelines for the management of GSD I are presented.