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, J V; Ullrich, Kurt; Smit, Gerrit

doi:10.1007/s00431-002-1016-7

Cited by 62 publications

(23 citation statements)

References 49 publications

(49 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…As a routine, GSD patients seen at the MGS-HCPA who are on UCCS therapy also receive a multivitamin prescription. Despite optimum dietary treatment other drugs could also be prescribed, mainly for type I patients, such as allopurinol, to prevent gout and urate nephropathy; angiotensin converting enzyme inhibitors, to slow-down or prevent further deterioration of renal function; citrate, to preventing or ameliorating urolithiasis and nephrocalcinosis, in addition to correcting lactacidaemia; statins to treat hypercholesterolaemia [15]; and mainly for Ib patients, G-CSF to treat neutropenia, neutrophil dysfunction and IBD; and the intestinal anti-inflammatory mesalazine (5-amino-salicylic acid), also to treat IBD [16].…”

Section: Methodsmentioning

confidence: 99%

Hepatic glycogen storage diseases are associated to microbial dysbiosis

et al. 2019

View full text Add to dashboard Cite

Introduction The gut microbiome has been related to several features present in Glycogen Storage Diseases (GSD) patients including obesity, inflammatory bowel disease (IBD) and liver disease. Objectives The primary objective of this study was to investigate associations between GSD and the gut microbiota. Methods Twenty-four GSD patients on treatment with uncooked cornstarch (UCCS), and 16 healthy controls had their faecal microbiota evaluated through 16S rRNA gene sequencing. Patients and controls were ≥3 years of age and not on antibiotics. Faecal pH, calprotectin, mean daily nutrient intake and current medications were recorded and correlated with gut microbiome. Results Patients’ group presented higher intake of UCCS, higher prevalence of IBD (n = 04/24) and obesity/overweight (n = 18/24) compared to controls (n = 0 and 06/16, respectively). Both groups differed regarding diet (in patients, the calories’ source was mainly the UCSS, and the intake of fat, calcium, sodium, and vitamins was lower than in controls), use of angiotensin-converting enzyme inhibitors (patients = 11, controls = 0; p-value = 0.001) multivitamins (patients = 22, controls = 01; p-value = 0.001), and mean faecal pH (patients = 6.23; controls = 7.41; p = 0.001). The GSD microbiome was characterized by low diversity and distinct microbial structure. The operational taxonomic unit (OTU) abundance was significantly influenced by faecal pH (r = 0.77; p = 6.8e-09), total carbohydrate (r = -0.6; p = 4.8e-05) and sugar (r = 0.057; p = 0.00013) intakes. Conclusions GSD patients presented intestinal dysbiosis, showing low faecal microbial diversity in comparison with healthy controls. Those findings might be due to the disease per se , and/or to the different diets, use of UCSS and of medicines, and obesity rate found in patients. Although the main driver of these differences is unknown, this study might help to understand how the nutritional management affects GSD patients.

show abstract

Section: Methodsmentioning

confidence: 99%

Hepatic glycogen storage diseases are associated to microbial dysbiosis

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Almost all adult patients show albuminuria and more than 50 % present proteinuria (Martens et al 2009). Finally, renal disease can slowly progress into renal failure that requires renal dialysis or transplantation (Rake et al 2002a).…”

mentioning

confidence: 99%

“…In the past, many patients with GSD1 did not survive infancy and childhood. Since the 1980s, life expectancy of patients with GSD1 has been considerably improved by stringent dietary treatment (Rake et al 2002a;H e l l e re ta l2008). Frequent meals combined with uncooked cornstarch (during the day-and/or nighttime) or gastric drip-feeding allow patients with GSD1 to avoid hypoglycemia and lactic acidemia.…”

mentioning

confidence: 99%

“…The first hepatic tumors generally appear during adolescence and are mainly classified as hepatocellular adenomas (HCA), which can transform into hepatocellular carcinomas (HCC) (Rake et al 2002b;F r a n c oe ta l2005; Wang et al 2011;Calderaro et al 2013). Tumor resection or liver transplantation are recommended if the tumors are associated with serious compression or hemorrhage, or show signs of malignant transformation into HCC (Rake et al 2002a;Reddy et al 2009). The first symptoms of renal disease are hyperperfusion and hyperfiltration and generally appear from childhood (Martens et al 2009).…”

mentioning

confidence: 99%

See 1 more Smart Citation

Lessons from new mouse models of glycogen storage disease type 1a in relation to the time course and organ specificity of the disease

Rajas

Clar

Gautier‐Stein

et al. 2014

J of Inher Metab Disea

View full text Add to dashboard Cite

Patients with glycogen storage diseases type 1 (GSD1) suffer from life-threatening hypoglycaemia, when left untreated. Despite an intensive dietary treatment, patients develop severe complications, such as liver tumors and renal failure, with aging. Until now, the animal models available for studying the GSD1 did not survive after weaning. To gain further insights into the molecular mechanisms of the disease and to evaluate potential treatment strategies, we have recently developed novel mouse models in which the catalytic subunit of glucose-6 phosphatase (G6pc) is deleted in each glucose-producing organ specifically. For that, B6.G6pc(ex3lox/ex3lox) mice were crossed with transgenic mice expressing a recombinase under the control of the serum albumin, the kidney androgen protein or the villin promoter, in order to obtain liver, kidney or intestine G6pc(-/-) mice, respectively. As opposed to total G6pc knockout mice, tissue-specific G6pc deficiency allows mice to maintain their blood glucose by inducing glucose production in the other gluconeogenic organs. Even though it is considered that glucose is produced mainly by the liver, liver G6pc(-/-) mice are perfectly viable and exhibit the same hepatic pathological features as GSD1 patients, including the late development of hepatocellular adenomas and carcinomas. Interestingly, renal G6pc(-/-) mice developed renal symptoms similar to the early human GSD1 nephropathy. This includes glycogen overload that leads to nephromegaly and morphological and functional alterations in the kidneys. Thus, our data suggest that renal G6Pase deficiency per se is sufficient to induce the renal pathology of GSD1. Therefore, these new mouse models should allow us to improve the strategies of treatment on both nutritional and pharmacological points of view.

show abstract

“…Имеется публикация о применении данного препарата у одного пациента с гликогенозом типа Ib, имевшего воспалительное заболевание кишечника, рефрактерное к стандартной лекарственной терапии, авторы констатировали положительный эффект. Однако рекомендации по рутинному применению адалимумаба в такой ситуации в настоящее время в целом нельзя считать обоснованными [27,37,48].…”

Section: консервативное лечениеunclassified

Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines

Баранов¹,

Намазова-Баранова²,

Сурков³

et al. 2020

Pediatr. farmakol.

View full text Add to dashboard Cite

Glycogen storage disease is the hereditary carbohydrate metabolism pathology which is caused by mutations in various genes encoding enzymes responsible for glycogenesis and glycogenolysis. Excessive glycogen deposition in various tissues cells (mostly in liver and muscles) occurs due to enzyme defects. The authors present recent epidemiological data and features of glycogen storage disease etiology and pathogenesis. Clinical characteristics of different types of this disease are also presented. The data on laboratory-instrumental and morphological signs of glycogen storage disease in children, as well as data on its treatment methods is provided in accordance with the developed clinical guidelines. The article provides relevant information on disease types with predominant liver involvement, besides the variety of clinical forms of glycogenosis.

show abstract

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 62 publications

References 49 publications

Hepatic glycogen storage diseases are associated to microbial dysbiosis

Hepatic glycogen storage diseases are associated to microbial dysbiosis

Lessons from new mouse models of glycogen storage disease type 1a in relation to the time course and organ specificity of the disease

Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines

Contact Info

Product

Resources

About