Diagnosis of glycogen storage disease -
Missing one of the enzymes that is essential to breaking down metabolizing glycogen into glucose. There are many different glycogen storage diseases also called glycogenoses. Each is identified by a Roman numeral. Some of these diseases cause few symptoms. Others are fatal. The specific symptoms, age at which symptoms start, and their severity vary considerably between these diseases.
For types II, V, and VII, the main symptom is usually weakness myopathy. For types I, III, and VI, symptoms are low levels of sugar in the blood hypoglycemia Hypoglycemia Hypoglycemia is abnormally low levels of sugar glucose in the blood.
Hypoglycemia is most often caused by medications taken to control diabetes. Much less common causes of hypoglycemia include read more and protrusion of the abdomen because excess or abnormal glycogen may enlarge the liver.
Low levels of sugar in the blood cause sweating, confusion, and sometimes seizures and coma. Other consequences for children may include stunted growth, frequent infections, and sores in the mouth and intestines. Glycogen storage diseases tend to cause uric acid a waste product to accumulate in the joints, which can cause gout Gout Gout is a disorder in which deposits of uric acid crystals accumulate in the joints because of high blood levels of uric acid hyperuricemia.
The accumulations of crystals cause flares attacks read more , and in the kidneys, which can cause kidney stones Stones in the Urinary Tract Stones calculi are hard masses that form in the urinary tract and may cause pain, bleeding, or an infection or block of the flow of urine. Tiny stones may cause no symptoms, but larger stones In type I glycogen storage disease, kidney failure is common at age 11 to 20 years or later.
Glycogen storage disease is diagnosed by examining a piece of muscle or liver tissue under a microscope biopsy and by doing magnetic resonance imaging Magnetic Resonance Imaging MRI Magnetic resonance imaging MRI is a type of medical imaging that uses a strong magnetic field and very high frequency radio waves to produce highly detailed images.
During an MRI, a computer read more MRI to detect glycogen in the tissues. Doctors confirm the diagnosis by analyzing the DNA. Glycogen storage disease type II Pompe disease is now part of the screening test for newborns Newborn Screening Tests Screening tests are done to detect health conditions that are not yet causing symptoms.
Many serious disorders that are not apparent at birth can be detected by various screening tests. Results of the European study on glycogen storage disease type I EGGSD I. Eur J Pediat.
Chou JY, Matern D, Mansfield, et al. Type I glycogen Storage diseases: disorders of the glucosePhosphatase complex. Curr Mol Med. Schwahn B, Rauch F, Wendel U, Schonau E. Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control.
Visser G, Rake JP, Labrune P, et al. Consensus guidelines for management of glycogen storage disease type 1b. Results of the European study on glycogen storage disease type I. Weinstein DA and Wolfsdorf JI. Effect of continuous gucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease.
Eur J Pediatr ; Janecke AR, Mayatepek E, and Utermann G. Molecular genetics of type I glycogen storage disease. Mol Genet Metab. Viser G, Rake JP, Fernandes, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type 1b: results of the European study on glycogen storage disease type I.
Chen YT, Bazarre CH, Lee MM, et al. Type I glycogen storage disease: nine years of management with corn starch. INTERNET Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. In: Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews® [Internet]. Seattle WA : University of Washington, Seattle; NORD strives to open new assistance programs as funding allows.
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Glycogen Storage Disease Type I Print. Acknowledgment NORD gratefully acknowledges Deeksha Bali, PhD, Professor, Division of Medical genetics, Department of Pediatrics, Duke Health; Co-Director, Biochemical Genetics Laboratories, Duke University Health System, and Yuan-Tsong Chen, MD, PhD, Professor, Division of Medical Genetics, Department of Pediatrics, Duke Medicine; Distinguished Research Fellow, Academia Sinica Institute of Biomedical Sciences, Taiwan for assistance in the preparation of this report.
Disease Overview Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady blood glucose levels for the body. Detailed evaluations may be useful for a differential diagnosis: Forbes or Cori disease GSD-III is one of several glycogen storage disorders that are inherited as autosomal recessive traits.
Genetic counseling is recommended for affected individuals and their families. For information about clinical trials being conducted at the National Institutes of Health NIH in Bethesda, MD, contact the NIH Patient Recruitment Office: Tollfree: TTY: Email: prpl cc. Additional Assistance Programs MedicAlert Assistance Program NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.
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Association for Glycogen Storage Disease AGSD. Email: info agsdus. Related Rare Diseases: Adult Polyglucosan Body Disease , Danon Disease , Pompe Disease , Metabolic Support UK. Email: contact metabolicsupportuk.
Related Rare Diseases: Glucose-Galactose Malabsorption , Sandhoff Disease , Aromatic L-Amino Acid Decarboxylase Deficiency , Phone: Email: NDDIC info. Association for Glycogen Storage Disease UK Ltd. Phone: Email: info agsd. Related Rare Diseases: Adult Polyglucosan Body Disease , Pompe Disease , Glycogen Storage Disease Type VI , Phone: Email: info curegsd.
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Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa. Yang F, Xu Y, Fang C, Tan L, Tan Q, Zhou Y. Clinical and genetic characteristics of three Chinese patients with glycogen storage disease type IXa.
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This study was financially supported by Transplant Research Center, affiliated with Shiraz University of Medical Sciences, Shiraz, Iran Grant No. Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Pathology, Shiraz University of Medical Sciences, Zand St. Shiraz Medical School Library, Shiraz University of Medical Sciences, Shiraz, Iran.
You can also search for this author in PubMed Google Scholar. ZB: served as primary investigator for the study, helped to design the study, directed data collection, analyzed data and interpretation, created first draft of manuscript, and edited the manuscript.
SK: Collected data. BG: Senior author, created the project, coordinated data collection, critically revised the work, and edited the manuscript. All authors read and approved the final manuscript. Correspondence to Bita Geramizadeh. This article is a systematic review, so it does not contain any studies with human participants or animals performed by any of the authors.
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Reprints and permissions. Beyzaei, Z. Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature.
Orphanet J Rare Dis 15 , Download citation. Received : 01 February Accepted : 05 October Published : 14 October Anyone you share the following link with will be able to read this content:.
Sorry, a shareable link is not currently available for this article. Provided by the Springer Nature SharedIt content-sharing initiative. Skip to main content. Search all BMC articles Search. Download PDF. Review Open access Published: 14 October Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature Zahra Beyzaei ORCID: orcid.
Abstract Background Glycogen storage diseases GSDs with liver involvement are complex disorders with similar manifestations. Results Eleven studies were included in this systematic review.
Conclusions According to our results, TGS analysis can be considered as the first-line diagnostic method with valuable results and ES can be used to diagnose complex cases of GSD with liver involvement. PROSPERO registration CRD Registered 8 January Background Glycogen storage disorders GSDs are a group of rare metabolic diseases with abnormal glycogen metabolism.
Materials and methods We conducted this study, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses PRISMA guidelines [ 26 ] Additional file 1. Inclusion and exclusion criteria Studies were included if they met the following criteria: 1 Peer-reviewed original research articles related to hepatic glycogen storage disease, including type I, III, IV, VI, IX, which has been diagnosed by MPS.
Studies were excluded if they met the following criteria: 1 All studies reporting the use of MPS in the diagnosis of other types of GSDs, such as muscular forms type III, IV i. Methodological quality assessment Both authors ZB and BG independently conducted a quality assessment of the studies.
Data extraction According to the PRISMA guidelines, data extraction was independently carried out by the two authors ZB, BG , using a data extraction form.
Results Study selection The study selection process is presented in Fig. The flow diagram of the study selection for the systematic review.
Full size image. Table 1 Main characteristics and outcomes of included studies Full size table. Discussion In this systematic review of 11 studies, our goal was to determine the diagnostic value of MPS as the first method of choice in GSDs with liver involvement. Conclusions The correct characterization of clinical, biochemical, and pathological patterns of patients is important in order to interpret the genetic results.
Abbreviations GSD: Glycogen storage diseases MPS: Massively parallel sequencing ES: Exome sequencing TGS: Targeted gene sequencing CMA: Chromosomal microarray. References Beyzaei Z, Geramizadeh B. PubMed PubMed Central Google Scholar Wang J, Cui H, Lee NC, Hwu WL, Chien YH, Craigen WJ, Zhang VW.
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Thank you Diagnsis Diagnosis of glycogen storage disease nature. You are using a browser gylcogen with limited support Glycgoen CSS. To obtain the best disese, Electrolyte Regulation recommend you use Dairy-free performance foods more up to date browser or turn off compatibility mode in Internet Explorer. In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript. Glycogen storage disease GSD is an umbrella term for a group of genetic disorders that involve the abnormal metabolism of glycogen; to date, 23 types of GSD have been identified. Thank Stofage for visiting nature. You are using a browser version with Diagnosis of glycogen storage disease support storagf CSS. To obtain the best experience, Multivitamin weight loss supplements recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer. In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript. Disclaimer: This guideline is designed primarily as an educational resource for clinicians to help them provide quality medical services.
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