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Diagnostics (Basel) 2020 May 13;10(5). Epub 2020 May 13.

Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, 04-730 Warsaw, Poland.

Background: The published data on the long-term outcomes of glycogen storage disease (GSD) patients is sparse in the literature. The aim of this study was to analyze the long-term (over 20 years) follow-up of patients with hepatic types of GSD-I, III, VI, and IX-from childhood to adulthood, managed by one referral center.

Patients And Methods: Thirty adult patients with hepatic GSD were included in the study. Read More

J Clin Exp Hepatol 2020 May-Jun;10(3):222-227. Epub 2019 Jul 25.

Paediatric Endocrinology and Metabolism Unit, Christian Medical College and Hospital, Vellore, India.

Background: Glycogen storage disease (GSD) is typified by early morning seizures. Absence of this results in delayed diagnosis, especially the non-GSD 1 group. Data are limited to few patients with unclear outcome. Read More

Pediatr Int 2020 May 6. Epub 2020 May 6.

University of Health Sciences, Kanuni Sultan Süleyman Training and Research Hospital, Division of Pediatric Metabolism, Istanbul, Turkey.

Background: Glycogen storage diseases (GSD) are disorder of autosomal recessive carbohydrate metabolism characterized by glycogen accumulation. Commonly affected organs are liver and muscle tissue, but patients may present with different clinical manifestations. The presence of glycogen can be demonstrated in biopsies and definitive diagnosis can be made by enzymatic or molecular analysis. Read More

BMC Med Genet 2020 04 8;21(1):74. Epub 2020 Apr 8.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.

Background: PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is mainly characterized in untreated children by hepatomegaly, growth retardation and elevated liver transaminases. Read More

Eur J Pediatr 2020 Mar 26;179(3):405-413. Epub 2019 Nov 26.

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

Glycogen storage disease type VI (GSD-VI; also known as Hers disease, liver phosphorylase deficiency) is caused by mutations in the gene coding for glycogen phosphorylase (PYGL) leading to a defect in the degradation of glycogen. Since there are only about 40 patients described in literature, our knowledge about the course of the disease is limited. In order to evaluate the long-term outcome of patients with GSD-VI, an observational retrospective case study of six patients was performed at the University Children's Hospital Zurich. Read More

Hepatol Commun 2019 Nov 24;3(11):1544-1555. Epub 2019 Sep 24.

Glycogen Storage Disease Program Department of Pediatrics University of Connecticut School of Medicine Farmington CT.

Mutations in the liver glycogen phosphorylase () gene are associated with the diagnosis of glycogen storage disease type VI (GSD-VI). To understand the pathogenesis of GSD-VI, we generated a mouse model with deficiency (). mice exhibit hepatomegaly, excessive hepatic glycogen accumulation, and low hepatic free glucose along with lower fasting blood glucose levels and elevated blood ketone bodies. Read More

Genet Med 2019 04 19;21(4):772-789. Epub 2019 Jan 19.

American College of Medical Genetics and Genomics, Bethesda, MD, USA.

Purpose: Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene. GSD IX is caused by deficient activity of phosphorylase kinase (PhK), the enzyme subunits of which are encoded by various genes: ɑ (PHKA1, PHKA2), β (PHKB), ɣ (PHKG1, PHKG2), and δ (CALM1, CALM2, CALM3). Read More

Indian Pediatr 2017 Sep;54(9):775-776

Department of Pediatrics, JIPMER, Puducherry; and *Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad; India. Correspondence to: Dr Barath Jagadisan, Associate Professor, Department of Pediatrics, JIPMER, Puducherry 605 006, India.

Background: Glycogen storage disease type VI (GSD-VI) presents with failure to thrive and also fibrosis in some cases, without cirrhosis.

Case Characteristics: 2½-year-old girl presented with short stature, transaminase elevation and significant fibrosis, suggesting GSD-III.

Observation: A pathogenic mutation in PYGL gene suggested GSD-VI. Read More

Clin Genet 2018 02 11;93(2):350-355. Epub 2017 Dec 11.

Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.

Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and 5 GSD Ia patients. Read More

J Inherit Metab Dis 2017 09 13;40(5):703-708. Epub 2017 Jun 13.

Glycogen Storage Disease Program, University of Florida, Gainesville, FL, USA.

The onset of microalbuminuria (MA) heralds the onset of glomerulopathy in patients with glycogen storage disease (GSD) type I. Unlike tubulopathy, which responds to improved metabolic control, glomerulopathy in GSD I is considered refractory to medical intervention, and it is thought to inexorably progress to overt proteinuria and renal failure. Recent reports of reduced microalbuminuria following strict adherence to therapy counter this view. Read More

Int Arch Allergy Immunol 2016 4;169(3):198-202. Epub 2016 May 4.

Department of Pediatric Allergy and Immunology, Ankara Children's Hematology and Oncology Hospital, Ankara, Turkey.

Enzyme replacement therapy (ERT) is important for the treatment of lysosomal storage disorders. Hypersensitivity reactions with ERT have been reported, and in these cases, desensitisation with the enzyme is necessary. Here we report the cases of 3 patients with lysosomal storage disorders, including Pompe disease and mucopolysaccharidosis type I and VI, who had IgE-mediated hypersensitivity reactions and positive skin tests. Read More

JIMD Rep 2016 3;28:41-47. Epub 2015 Nov 3.

Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 30 001, 9700 RB, Groningen, The Netherlands.

Background: According to the textbooks, the ketotic glycogen storage disease (GSD) types 0, III, VI, IX, and XI are associated with fasting ketotic hypoglycemia and considered milder as gluconeogenesis is intact.

Methods: A retrospective cohort study of biochemical profiles from supervised clinical fasting studies is performed in ketotic GSD patients in our metabolic center. For data analysis, hypoglycemia was defined as plasma glucose concentration <2. Read More

Curr Opin Clin Nutr Metab Care 2015 Jul;18(4):415-21

aDivision of Metabolism and Children's Research Center, University Children's Hospital bDivision of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich cradiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland.

Purpose Of Review: Glycogen storage disorders (GSDs) are inborn errors of metabolism with abnormal storage or utilization of glycogen. The present review focuses on recent advances in hepatic GSD types I, III and VI/IX, with emphasis on clinical aspects and treatment.

Recent Findings: Evidence accumulates that poor metabolic control is a risk factor for the development of long-term complications, such as liver adenomas, low bone density/osteoporosis, and kidney disease in GSD I. Read More

Vestn Ross Akad Med Nauk 2014 (7-8):78-84

Aim: The purpose of the study was to assess mitochondrial dysfunction severity in patients with hepatic forms of glycogen storage disease (GSD).

Patients And Methods: We examined 53 children with GSD in the dynamics. Distribution of children by disease types was: 1st group--children with GSD type I, 2nd group--children with GSD type III, 3rd group--children with GSD type VI and IX; comparison group consisted of 34 healthy children. Read More

Mol Genet Metab 2014 Nov 21;113(3):171-6. Epub 2014 Sep 21.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

Objectives: Glycogen storage disease (GSD) types VI and IX are caused by phosphorylase system deficiencies. To evaluate the natural history and long-term treatment outcome of the patients with GSD-VI and -IX, we performed an observational retrospective case study of 21 patients with confirmed diagnosis of GSD-VI or -IX.

Methods: All patients with GSD-VI or -IX, diagnosed at The Hospital for Sick Children, were included. Read More

Br J Radiol 2014 Jan 14;87(1033):20130467. Epub 2013 Nov 14.

Lysosomal storage diseases (LSDs) are a large group of genetic metabolic disorders that result in the accumulation of abnormal material, such as mucopolysaccharides, glycoproteins, amino acids and lipids, within cells. Since many LSDs manifest during infancy or early childhood, with potentially devastating consequences if left untreated, timely identification is imperative to prevent irreversible damage and early death. In this review, the key imaging features of the non-lipid or extralipid LSDs are examined and correlated with salient clinical manifestations and genetic information. Read More

Orphanet J Rare Dis 2012 May 15;7:26. Epub 2012 May 15.

Service d'Endocrinologie et maladies Métaboliques, Hôpital Claude Huriez, Centre Hospitalier Régional et Universitaire de Lille, France.

In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hypoglycaemic episodes remain unexplained, and inborn errors of metabolism (IEM) should be considered, particularly in cases of multisystemic involvement. In children, IEM are considered a differential diagnosis in cases of hypoglycaemia. Read More

Arch Pediatr 2011 Oct 27;18(10):1119-23. Epub 2011 Aug 27.

Centre de référence des maladies héréditaires du métabolisme de l'enfant et de l'adulte (MaMEA), hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.

In the last years, much progress has been achieved in the treatment of lysosomal storage disorders. Until recently only symptomatic treatment was available for the affected patients. Progressively enzyme replacement treatments have been developed for several diseases, namely Gaucher disease, Fabry disease, mucopolysaccharidoses type I, II and VI and Pompe disease. Read More

Transplant Proc 2011 May;43(4):1181-3

U.O.C. Chirurgia dei Trapianti, Fondazione PTV, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.

Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism due to intracellular enzyme deficiency resulting in abnormal storage of glycogen in tissues. GSD represents an indication for liver transplantation (OLT) when medical treatment fails to control the metabolic dysfunction and/or there is an high risk of malignant transformation of hepatocellular adenomas (HCA). Herein we have reported two cases of GSD, type Ia and type VI, which were both associated with rapidly growing HCA, and underwent OLT because of suspect changes in their radiological features. Read More

Genet Med 2011 May;13(5):457-84

CHOC Children's, Orange, California, USA.

Purpose: To develop educational guidelines for the diagnostic confirmation and management of individuals identified by newborn screening, family-based testing after proband identification, or carrier testing in at-risk populations, and subsequent prenatal or postnatal testing of those who are presymptomatic for a lysosomal storage disease.

Methods: Review of English language literature and discussions in a consensus development panel comprised an international group of experts in the clinical and laboratory diagnosis, treatment and management, newborn screening, and genetic aspects of lysosomal storage diseases.

Results: Although clinical trial and longitudinal data were used when available, the evidence in the literature is limited and consequently the recommendations must be considered as expert opinion. Read More

Ann Biol Clin (Paris) 2011 Jan-Feb;69(1):41-5

Faculte de medecine lbn El Jazzar, Sousse, Tunisie.

The confirmation of type III glycogen storage disease diagnosis is based on histological explorations on to live and/or muscle biopsies that induce some problems of delay and sensitivity. The purpose of this study was to evaluate a fluorimetric technique for the determination of amylo-1,6-glucosidase activity in leukocytes, in order to confirm the diagnosis of type III glycogen storage disease. The method consists in measuring the glucose released by hydrolysis of phosphorylase dextrin limit in the presence of cellular extracts, in 50 volunteers and 18 patients suspected of glycogenosis. Read More

Eur J Med Genet 2011 Mar-Apr;54(2):118-20. Epub 2010 Oct 28.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Our view of SNPs has evolved significantly from harmless mutational events that accumulated through the history of human race to important players in human health and disease. As a result, determining the pathologic vs. benign nature of SNPs on pure statistical basis is now viewed as too simplistic. Read More

Pediatr Int 2010 Jun;52(3):e150-3

Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba-shi, Chiba, Japan.

Genet Med 2008 Aug;10(8):626-32

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

In 1993, the first effective enzyme replacement therapy for a genetic disease, Ceredase (Genzyme Corporation, Cambridge, MA), was approved for use in patients with Gaucher disease. Over the next 13 years, enzyme replacement therapy became clinically available for the treatment of Fabry disease, mucopolysaccharidosis Type I, mucopolysaccharidosis Type II, mucopolysaccharidosis Type VI, and glycogen storage disease Type II. The development of enzyme replacement therapy to treat lysosomal storage diseases has resulted in an increasing number of genetic patients undergoing weekly or biweekly intravenous enzyme replacement therapy and an expanded role of the genetics team to include comprehensive care involving therapeutic intervention for lysosomal storage diseases. Read More

Drugs 2007 ;67(18):2697-716

Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

Enzyme replacement therapy (ERT) as treatment for lysosomal storage diseases (LSDs) was suggested as long ago as 1966 by De Duve and Wattiaux. However, it took >35 years to demonstrate the safety and effectiveness of ERT for type 1 Gaucher's disease. An important breakthrough was certainly the enactment of legislation in the US, designed to encourage commercialisation of products developed in academic institutions for pharmaceutical companies to invest in treatments for rare diseases. Read More

J Inherit Metab Dis 2007 Nov 12;30(6):896-902. Epub 2007 Nov 12.

Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Steinwiesstrasse 75, CH-8032, Zurich, Switzerland.

An elevated serum biotinidase activity in patients with glycogen storage disease (GSD) type Ia has been reported previously. The aim of this work was to investigate the specificity of the phenomenon and thus we expanded the study to other types of hepatic GSDs. Serum biotinidase activity was measured in a total of 68 GSD patients and was compared with that of healthy controls (8. Read More

J Inherit Metab Dis 2007 Oct 21;30(5):722-34. Epub 2007 Aug 21.

Academic Unit of Child Health, University of Sheffield, Stephenson Wing, Sheffield Children's NHS Trust, Western Bank, Sheffield, S10 2TH, UK.

Deficiency of liver glycogen phosphorylase in glycogen storage disease (GSD) type VI results in a reduced ability to mobilize glucose from glycogen. Six mutations of the PYGL gene, which encodes the liver isoform of the enzyme, have been identified in the literature. We have characterized eight patients from seven families with GSD type VI and identified 11 novel PYGL gene defects. Read More

World J Gastroenterol 2007 May;13(18):2541-53

Division of Gastroenterology, Hepatology and Nutrition, Hacettepe University Children's Hospital, Ankara, Turkey.

Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. Different hormones, including insulin, glucagon, and cortisol regulate the relationship of glycolysis, gluconeogenesis and glycogen synthesis. The overall GSD incidence is estimated 1 case per 20000-43000 live births. Read More

Semin Pediatr Neurol 2006 Jun;13(2):115-20

University Childrens' Hospital and Molecular Genetics and Metabolism Laboratory, Munich, Germany.

Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and brain and divided into types 0 to X. GSD type I, glucose 6-phosphatase system, has types Ia, Ib, Ic, and Id, glucose 6-phosphatase, glucose 6-phosphate translocase, pyrophosphate translocase, and glucose translocase deficiencies, respectively. GSD type II is caused by defective lysosomal alpha-glucosidase (GAA), subdivided into 4 onset forms. Read More

Am J Physiol Endocrinol Metab 2005 Mar 26;288(3):E633-44. Epub 2004 Oct 26.

Biotechnology and Bioengineering Center, Dept. of Physiology, Medical College of Wisconsin, 8701 Watertown Plank Rd., Milwaukee, WI 53226, USA.

Thermodynamic-based constraints on biochemical fluxes and concentrations are applied in concert with mass balance of fluxes in glycogenesis and glycogenolysis in a model of hepatic cell metabolism. Constraint-based modeling methods that facilitate predictions of reactant concentrations, reaction potentials, and enzyme activities are introduced to identify putative regulatory and control sites in biological networks by computing the minimal control scheme necessary to switch between metabolic modes. Computational predictions of control sites in glycogenic and glycogenolytic operational modes in the hepatocyte network compare favorably with known regulatory mechanisms. Read More

J Trop Pediatr 2004 08;50(4):196-202

Department of Pediatrics, Cairo University, Egypt.

We encountered two children suffering from liver glycogenoses (GSD) over a period of 5 years (1992-1997) who presented with a demyelinating peripheral neuropathy diagnosed by electromyography (EMG) and nerve conduction studies (NCV). The aim of the study was to evaluate the involvement of muscle and motor nerve in children suffering from liver glycogenoses. In a cross-sectional study, 22 children suffering from liver GSD (with no current neurological symptoms) and 20 age- and sex- matched clinically free children (control group) underwent creatine phospho-kinase (CPK), EMG, and NCV studies. Read More

Mol Genet Metab 2003 Jun;79(2):142-5

Department of Chemical Pathology, Faculty of Medicine, The Chinese University of Hong Kong, China.

We identified a novel mutation in the glycogen phosphorylase gene (PGYL) in a Chinese patient with glycogen storage disease (GSD) type VI. The patient presented with gross hepatomegaly since the age of two without history of any hypoglycemic attack. Otherwise, he was largely asymptomatic. Read More

Pediatr Dev Pathol 2002 May-Jun;5(3):299-304

Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University School of Medicine, 06100 Ankara, Turkey.

In this report, the histologic criteria for the diagnosis of type Ia glycogen storage disease (GSD) in a wide age range were studied. Liver needle biopsies of 44 patients with type Ia GSD confirmed by enzyme analysis were re-evaluated and compared. Fatty change, nuclear hyperglycogenation (NH), and fibrosis were examined and graded. Read More

Boll Soc Ital Biol Sper 1999 Jan-Feb;75(1-2):9-15

Department of Biomedical Sciences and Human Oncology, University of Bari.

The erythrocyte deformability of 28 patients with anemia was evaluated with the laser-assisted optical rotational cell analyzer (LORCA), an image analyzer that converts into numerical form the degree of refraction of a laser beam induced by red cells subjected to a range of torsional stresses. The patients were 10 thalassemics, including three with intermediate forms (1 HbC/beta degree, 1 homozygote beta for Orkin's haplotype VI, 1 beta degree/beta delta Sicilian type) and seven heteroygotes for beta Th; six with hereditary spherocytosis (including 2 with structural alteration of the spectrin beta chain); three with type II congenital dyserythropoietic anemia (HEMPAS), two hemizygotes and one heterozygote for G-6PD deficiency, and six with severe hypochromic hyposideremic anemia. Red cell deformability was reduced in intermediate thalassemia, hereditary spherocytosis and HEMPAS, normal in heterozygous beta thalassemia and G-6PD deficiency, and increased in hypochromic hyposideremic anemia. Read More

Am J Hum Genet 1998 Apr;62(4):785-91

Institut für Physiologische Chemie, Ruhr-Universität Bochum, Bochum, Germany.

Deficiency of glycogen phosphorylase in the liver gives rise to glycogen-storage disease type VI (Hers disease; MIM 232700). We report the identification of the first mutations in PYGL, the gene encoding the liver isoform of glycogen phosphorylase, in three patients with Hers disease. These are two splice-site mutations and two missense mutations. Read More

Hum Mol Genet 1998 May;7(5):865-70

Laboratory of Genetic Disease Research and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Glycogen storage disease type VI (GSD6) defines a group of disorders that cause hepatomegaly and hypoglycemia with reduced liver phosphorylase activity. The course of these disorders is generally mild, but definitive diagnosis requires invasive procedures. We analyzed a Mennonite kindred with an autosomal recessive form of GSD6 to determine the molecular defect and develop a non-invasive diagnostic test. Read More

Ryoikibetsu Shokogun Shirizu 1998 (18 Pt 1):49-50

Department of Pediatrics, Faculty of Medicine, Osaka University.

Acta Paediatr Jpn 1996 Oct;38(5):524-8

Department of Pediatrics, School of Medicine, Niigata University, Japan.

A 9-month-old male was found to have hepatomegaly when he was treated by his doctor for bronchitis. At the age of 2 years and 3 months, glycogen storage disease (GSD) of type VI (GSD VI) was diagnosed in this patient. Despite the recommended diet therapy, his growth was not good, changing under or along the line of -2. Read More

Arq Gastroenterol 1995 Jul-Sep;32(3):146-51

Departamento de Puericultura e Pediatria, Universidade de São Paulo.

We studied 20 children with a clinical picture and laboratory study suggestive of hepatic glycogenosis. The age of the beginning of symptoms varied from birth to 24 months and the age at the diagnosis varied from 2 to 81 months. Hepatomegaly was found in all patients, diarrhea in 65% (13/26), "doll-face" in 55% (11/20) and convulsions in 50% (10/20). Read More

Br J Radiol 1994 Nov;67(803):1062-6

Medical Unit Institute of Child Health, Hospital for Sick Children, London, UK.

Hepatic ultrasonography was performed on 70 patients with the hepatic glycogen storage diseases (GSDs) to assess parenchymal echogenicity. 27 patients had GSD-I, 24 had GSD-III and 19 had GSDs-VI/IX; ages varied from 0.6 to 35. Read More

Cytogenet Cell Genet 1994 ;66(1):33-8

Research Institute, Hospital for Sick Children, Toronto, Ont., Canada.

We have used a panel of human x rodent somatic cell hybrids containing translocations involving chromosome 14 to regionally localize 17 genes and 5 random segments previously mapped to chromosome 14. Each hybrid cell line contains a specific fragment of chromosome 14, with breakpoints at 14q11.2, 14q21, 14q22, 14q24. Read More

J Pediatr Gastroenterol Nutr 1994 Jan;18(1):41-4

Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France.

Hepatic glycogen storage diseases are hereditary metabolic disorders involving the metabolism of glycogen. This study was designed to investigate the serum protein status in such diseases. Fifty-five patients with glycogen storage disease types I, III, VI, and IX, whose ages ranged from 1 month to 27 years, were included in this work. Read More

J Am Diet Assoc 1993 Dec;93(12):1423-30

Division of Pediatric Endocrinology and Metabolism, North Shore University Hospital-Cornell University Medical College, Manhasset, NY 11030.

Hepatic glycogen storage diseases (GSD) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of one of a number of possible enzyme deficiencies along the glycogenolytic pathway. Patients with GSD are usually diagnosed in infancy or early childhood with hypoglycemia, hepatomegaly, poor physical growth, and a deranged biochemical profile. Dietary therapies have been devised to use the available alternative metabolic pathways to compensate for disturbed glycogenolysis in GSD I (glucose-6-phosphatase deficiency), GSD III (debrancher enzyme deficiency), GSD VI (phosphorylase deficiency, which is less common), GSD IX (phosphorylase kinase deficiency), and GSD IV (brancher enzyme deficiency). Read More

Nihon Rinsho 1993 Feb;51(2):514-9

Department of Pediatrics, Osaka University Medical School.

Recent advances of molecular analyses of hepatic glycogen storage diseases have made some progress in understanding of glycogen metabolism. Glucose-6-phosphatase has been shown to comprise at least five different polypeptides, the catalytic subunit, a regulatory Ca2+ binding protein, three transport proteins (glucose-6-phosphate, phosphate/pyrophosphate, glucose). A defect of these protein could cause type I glycogenosis. Read More

Eur J Pediatr 1993 ;152 Suppl 1:S77-84

Institut für Klinische Chemie und Laboratoriumsmedizin, Westfälische Wilhelms-Universität, Münster, Federal Republic of Germany.

The glycogen storage disorders (GSD)-I, -III, -VI and -VIII are associated with hypertriglyceridaemia or mixed hyperlipidaemia which poses the question whether these patients have an increased risk for atherosclerosis. The atherogenicity of triglycerides has remained controversial, while increased plasma cholesterol levels are generally accepted as a significant risk factor for coronary heart disease. However, clinical data show that one has to differentiate between metabolic conditions where triglycerides are atherogenic and those which are not significantly related to early onset of atherosclerosis but may cause other disorders such as pancreatitis. Read More

G E N 1992 Jul-Sep;46(3):191-8

Departamento de Pediatría, Universidad de Carabobo, Hospital Central de Valencia, Venezuela.

Nine children with clinical diagnosis of glycogenoses were studied, types were confirmed through determination of levels and structure of glycogen, stimulation with glucagon and enzymatic defect analyses. Eight patients suffered glycogenoses type III and one, type VI. The major age group un type III was 1 to 2 years old (62. Read More

J Inherit Metab Dis 1992 ;15(5):723-6

Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France.

Glycogen storage disease was suspected in a 10-month-old boy. Initial technical problems did not permit the determination of the precise enzyme, deficiency, and type VI glycogen storage disease was only diagnosed at the age of 2 years. In the mean time, natural abundance 13C nuclear magnetic resonance evaluation of muscular and hepatic glycogen content indicated normal muscular glycogen and increased hepatic glycogen in our patient, a finding which strongly argued for the diagnosis of type VI glycogen storage disease. Read More

Clin Biochem 1991 Apr;24(2):169-78

Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.

French experience of 242 cases of liver glycogenoses is reported. Screening tests based on serum biochemical data and glucagon tolerance tests are briefly reviewed. The diagnosis of types I glycogen storage disease (GSD) was ascertained in 73 patients' liver biopsies by measurement of glycogen content and by studying the glucose-6-phosphatase system. Read More

Kinderarztl Prax 1990 Sep;58(9):471-3

Klinik für Kindermedizin, Karl-Marx-Universität Leipzig.

The average HbA1 concentrations of 20 patients with hypoglycaemic diseases were not significantly different from metabolically healthy controls. There was also no correlation between the HbA1 and the blood glucose levels of these patients. Remarkably, two patients which responded to therapy with an increase of blood glucose showed also an increase of HbA1. Read More