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Orphanet J Rare Dis 2022 03 21;17(1):127. Epub 2022 Mar 21.

Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Khalili St., Research Tower, Seventh Floor, Shiraz, Iran.

Background: Glycogen storage diseases (GSDs) are inherited glycogen metabolic disorders which have various subtypes. GSDs of type I, III, IV, VI, and IX show liver involvement and are considered as hepatic types of GSDs. Thus, liver transplantation (LT) has been proposed as a final therapy for these types of GSD. Read More

Hum Mutat 2022 May 24;43(5):557-567. Epub 2022 Feb 24.

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

Glycogen storage disease (GSD) Type VI is a glycogenolysis disorder caused by variants of PYGL. Knowledge about this disease is limited because only approximately 50 cases have been reported. We investigated the clinical profiles, molecular diagnosis, and treatment outcomes in patients with GSD VI from 2000 to 2021. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 Feb;39(2):209-212

Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing, Jingsu 210008, China. [email protected] aliyun.com.

Objective: To explore the clinical features and genetic basis of a patient with glycogen storage disease type VI (GSD-VI).

Methods: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples of the proband and his parents. Read More

Lipids Health Dis 2022 Jan 18;21(1):11. Epub 2022 Jan 18.

Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, 9 Jinsui Road, 510623, Guangzhou, Guangdong, China.

Background: Sitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by mutations in the ABCG5 and/or ABCG8 genes. The disease is frequently misdiagnosed and mistreated as familial hypercholesterolemia (FH). To gain a better understanding of the disease, the current status of diagnosis and treatment of Chinese patients with sitosterolemia was reviewed and summarized. Read More

J Pediatr Endocrinol Metab 2022 Mar 6;35(3):373-385. Epub 2022 Jan 6.

Department of Paediatrics & Child Health, The Aga Khan University (AKU) Hospital, Karachi, Pakistan.

Objectives: Evaluation of clinical, biochemical and molecular analysis of Pakistani patients with hepatic GSDs.

Methods: Medical charts, biochemical, histopathological and molecular results of patients with hepatic GSD were reviewed.

Results: Out of 55 GSD patients, 41 (74. Read More

Genes (Basel) 2021 08 3;12(8). Epub 2021 Aug 3.

Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre-University of Freiburg, 79106 Freiburg, Germany.

Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen metabolism due to mutations in the glycogen phosphorylase gene (), resulting in a deficiency of hepatic glycogen phosphorylase. We performed a systematic literature review in order to collect information on the clinical phenotypes and genotypes of all published GSD VI patients and to compare the data to those for GSD IX, a biochemically and clinically very similar disorder caused by a deficiency of phosphorylase kinase. A total of 63 genetically confirmed cases of GSD VI with clinical information were identified (median age: 5. Read More

Mol Genet Metab Rep 2021 Jun 8;27:100770. Epub 2021 May 8.

Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre- University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106 Freiburg, Germany.

Glycogen storage disease type VI is caused by biallelic variants in the gene that result in hepatic glycogen phosphorylase deficiency The disorder is clinically characterized by hepatomegaly and recurrent ketotic hypoglycemia from infancy. Although most patients reach adulthood without major complications, no pregnancies in women with GSD VI have been reported so far. We report on a successful pregnancy in a GSD VI patient that resulted in a healthy offspring and describe the pre- and perinatal management. Read More

Medicine (Baltimore) 2021 Apr;100(16):e25520

Department of Pediatrics.

Rationale: Glycogen storage disease (GSD) type VI is a rare disease caused by the inherited deficiency of liver phosphorylase.

Patient Concerns: The proband, a 61-month-old Chinese boy, manifested intermittent hematochezia, growth retardation, hepatomegaly, damage of liver function, mild hypoglycemia, and hyperlactatemia. The other patient was a 107-month-old Chinese girl with growth retardation, hepatomegaly, mild hypoglycemia, and hyperlactatemia. Read More

Diagnostics (Basel) 2021 Mar 12;11(3). Epub 2021 Mar 12.

Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre University of Freiburg, 79106 Freiburg, Germany.

Introduction: Glycogen storage disease type VI (GSD VI) is a disorder of glycogen metabolism due to mutations in the gene. Patients with GSD VI usually present with hepatomegaly, recurrent hypoglycemia, and short stature.

Results: We report on two non-related Turkish patients with a novel homozygous splice site variant, c. Read More

Front Genet 2020 11;11:601566. Epub 2021 Jan 11.

Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Glycogen storage diseases (GSDs) are the heterogeneous group of disorders caused by mutations in at least 30 different genes. Different types of GSDs, especially liver GSDs, take overlapping symptoms and can be clinically indistinguishable. This survey evaluated the use of whole-exome sequencing (WES) for the genetic analysis of the liver GSD-suspected patients in three unrelated families. Read More

Orphanet J Rare Dis 2020 10 14;15(1):286. Epub 2020 Oct 14.

Shiraz Medical School Library, Shiraz University of Medical Sciences, Shiraz, Iran.

Background: Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay, are invasive. Meanwhile, GSDs are diseases with significant genetic heterogeneity, and gene-sequencing methods can be more useful. Read More

J Mol Diagn 2020 12 19;22(12):1373-1382. Epub 2020 Sep 19.

Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai, China. Electronic address:

The PYGL gene is the only established gene known to cause glycogen storage disease type VI (GSD6), which is a rare autosomal recessive disorder associated with hepatomegaly, elevated levels of hepatic transaminases, and hypoglycemia. Extended bioinformatics analysis was performed on the exome sequencing data of 5 patients who were clinically diagnosed as having or highly suspected of having GSD, and a single heterozygous pathogenic or likely pathogenic or rare variant of uncertain significance single-nucleotide variant was identified on the PYGL gene. A recurrent, novel, 3. Read More

J Pediatr Endocrinol Metab 2020 Sep 7;33(10):1321-1333. Epub 2020 Sep 7.

The Center for Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.

Objectives The aim of our study is to systematically describe the genotypic and phenotypic spectrum of Glycogen storage disease type VI (GSD VI), especially in Chinses population.  Methods We retrospectively analyzed ten Chinese children diagnosed as having GSD VI confirmed by next generation sequencing in Children's Hospital of Fudan University and Jinshan Hospital of Fudan University. We described the genotypic and phenotypic spectrum of GSD VI through the clinical and genetic data we collected. Read More

Dig Liver Dis 2021 01 4;53(1):86-93. Epub 2020 Jun 4.

Paediatric Service for Hepatology, Gastroenterology and Nutrition, King's College Hospital, Denmark Hill, SE5 9RS, London UK. Electronic address:

Background: Glycogen storage diseases (GSD) type VI and IX are caused by liver phosphorylase system deficiencies and the two types are clinically indistinguishable.

Aim: As the role of liver biopsy is increasingly questioned, we aim to assess its current value in clinical practice.

Methods: We retrospectively reviewed children with diagnosis of GSD VI and IX at a paediatric liver centre between 2001 and 2018. Read More

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 Oct 28;62(10):1145-1150. Epub 2020 Sep 28.

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

Background: Glycogen storage diseases (GSD) are disorders of autosomal recessive carbohydrate metabolism, characterized by glycogen accumulation. The liver and muscle tissue are commonly affected 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

Clin Respir J 2020 May 22;14(5):422-429. Epub 2020 Jan 22.

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

Lysosomal storage disorders (LSDs) are multisystemic, progressive and clinically very heterogeneous. Respiratory complications are not regarded as the principal problems of LSDs, but significantly impact morbidity. In this review, we focus on pulmonary complications observed in late-onset LSDs, their milder forms that are recognised in adulthood. 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

J Inherit Metab Dis 2020 01 26;43(1):125-132. Epub 2019 Jun 26.

Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.

The first enzyme replacement therapy (ERT) for a lysosomal storage disorder (LSD) was approved in 1991 and we now have more than 25 years of experience of treating patients with type 1 Gaucher disease. Because of the remarkable success of this therapy, enormous effort and resource has gone into developing other ERTs, for Gaucher (where three different enzyme preparations have now been approved) and for other LSDs. We now have more than 10 years of clinical experience in using ERT to treat Gaucher, Fabry, Pompe and MPS I, II, and VI. 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