Skip to content
  • Argentina
  • Brazil
  • Canada
  • Chile
  • Colombia
  • Europe
  • France
  • Germany
  • India
  • Italy
  • Japan
  • Korea
  • Mexico
  • Perú
  • Russia
  • Spain
  • Taiwan
  • The Middle East
  • Turkey
  • United Kingdom
  • United States
  • Vietnam
  • Country/Region
    • Clinic Portal
      • +0034963905310
    • Request Information
    • +34 96 390 53 10
    InternationalInternational
    • Country/Region
    • We guide you
      • Fertility
        • What to do if…
      • Prevent Inherited Diseases
        • Carrier Genetic Test
      • Worry-free Pregnancy
        • NACE
        • Prenatal Diagnostics
        • Newborn Health
    • Reproductive Health
      • Specialists
        • ALICE
        • EMMA
        • ERA
        • EndomeTRIO
        • EMBRACE
        • CGT
        • NACE
        • Zenit
        • PGT-A
        • PGT-M
        • POC
        • SAT
        • Newborn Screening
      • Patients
        • ALICE
        • EMMA
        • ERA
        • EndomeTRIO
        • EMBRACE
        • CGT
        • NACE
        • Zenit
        • PGT-A
        • PGT-M
        • SAT
        • POC
    • Diagnostics
    • About us
      • Igenomix Research
      • About Igenomix
    • Academy
    • Blog
        Genomics Precision Diagnostic > Metabolic Precision Panel > Glycogen Storage Diseases Precision Panel

        Glycogen Storage Diseases Precision Panel

        Glycogen Storage Diseases (GSD) are a group of inherited disorders that result from errors of glycogen metabolism caused by mutations in genes that code for enzymes involved in glycogen synthesis and degradation. 
        Overview
        Indication
        Clinical Utility
        Genes & Diseases
        Methodology
        References

        Overview

        • Glycogen Storage Diseases (GSD) are a group of inherited disorders that result from errors of glycogen metabolism caused by mutations in genes that code for enzymes involved in glycogen synthesis and degradation. There are five types of Glycogen Storage Diseases according to their individual enzyme deficiency, type 1 or von Gierke disease being the most common type. The age of onset of symptoms may range from the first months of life to later decades in life. Symptoms arise from abnormal glycogen metabolism and accumulation of glycogen within cells of certain tissues (i.e., liver and skeletal muscles).  

        • The Igenomix Glycogen Storage Diseases Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of hypoglycemia ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

        Indication

        • The Igenomix Glycogen Storage Diseases Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: 
          • Hypoglycemia 
          • Hepatomegaly 
          • Poor growth 
          • Increased uric acid, lactic acid and triglycerides 
          • Cardiomegaly 
          • Muscle hypotonia 
          • Delayed gross motor development  
          • Respiratory difficulty 
          • Muscle cramp and fatigue 

        Clinical Utility

        The clinical utility of this panel is: 

        • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
        • Early initiation of treatment with a multidisciplinary team in the form of nutritional management with frequent oral glucose consumption and enzyme replacement therapy. 
        • Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
        • Improvement of delineation of genotype-phenotype correlation. 

        Genes & Diseases

        Methodology

        References

        See scientific referrals

        Ellingwood, S. S., & Cheng, A. (2018). Biochemical and clinical aspects of glycogen storage diseases. The Journal of endocrinology, 238(3), R131–R141. https://doi.org/10.1530/JOE-18-0120 

        Hicks, J., Wartchow, E., & Mierau, G. (2011). Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment. Ultrastructural pathology, 35(5), 183–196. https://doi.org/10.3109/01913123.2011.601404 

        Kishnani, P. S., Sun, B., & Koeberl, D. D. (2019). Gene therapy for glycogen storage diseases. Human molecular genetics, 28(R1), R31–R41. https://doi.org/10.1093/hmg/ddz133 

        Ross, K. M., Ferrecchia, I. A., Dahlberg, K. R., Dambska, M., Ryan, P. T., & Weinstein, D. A. (2020). Dietary Management of the Glycogen Storage Diseases: Evolution of Treatment and Ongoing Controversies. Advances in nutrition (Bethesda, Md.), 11(2), 439–446. https://doi.org/10.1093/advances/nmz092 

        Kishnani, P. S., Goldstein, J., Austin, S. L., Arn, P., Bachrach, B., Bali, D. S., Chung, W. K., El-Gharbawy, A., Brown, L. M., Kahler, S., Pendyal, S., Ross, K. M., Tsilianidis, L., Weinstein, D. A., Watson, M. S., & ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX (2019). Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics, 21(4), 772–789. https://doi.org/10.1038/s41436-018-0364-2 

        Derks, T., Oosterveer, M. H., & De Souza, C. F. (2018). Next-generation glycogen storage diseases. Journal of inherited metabolic disease, 41(6), 911–912. https://doi.org/10.1007/s10545-018-00250-0 

        descargar

        Detail description

        Download

        Request Information


        WE GUIDE YOU

        Fertility
        Inherited diseases prevention
        Healthy pregnancy

        To see the accreditation certificate, associated technical annex and list of accredited tests, click on this link.

        OUR SERVICES

        Genetic solutions
        For patients
        How to send a sample?
        User manual

        ABOUT US

        About Igenomix
        Contact
        Quality
        Complaints
        Work with us

        FOLLOW IGENOMIX

          + 96 390 53 10
          Write us
        • Argentina
        • Brazil
        • Canada
        • Chile
        • Colombia
        • Europe
        • France
        • Germany
        • India
        • Italy
        • Japan
        • Korea
        • Mexico
        • Perú
        • Russia
        • Spain
        • Taiwan
        • The Middle East
        • Turkey
        • United Kingdom
        • United States
        • Vietnam
        Country/Region

        [2021] © Igenomix Privacy policy Quality policy Legal note Cookies policyNews and Press

        Request Information


        • We guide you
          • Fertility
            • What to do if…
          • Prevent Inherited Diseases
            • Carrier Genetic Test
          • Worry-free Pregnancy
            • NACE
            • Prenatal Diagnostics
            • Newborn Health
        • Reproductive Health
          • Specialists
            • ALICE
            • EMMA
            • ERA
            • EndomeTRIO
            • EMBRACE
            • CGT
            • NACE
            • Zenit
            • PGT-A
            • PGT-M
            • POC
            • SAT
            • Newborn Screening
          • Patients
            • ALICE
            • EMMA
            • ERA
            • EndomeTRIO
            • EMBRACE
            • CGT
            • NACE
            • Zenit
            • PGT-A
            • PGT-M
            • SAT
            • POC
        • Diagnostics
        • About us
          • Igenomix Research
          • About Igenomix
        • Academy
        • Blog
        • Country/Region
        • +34 96 390 53 10
        • Clinic Portal
        • Request Information

        We are using cookies to give you the best experience on our website.

        You can find out more about which cookies we are using or switch them off in settings.

        International
        Powered by  GDPR Cookie Compliance
        Privacy Overview

        This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.

        Strictly Necessary Cookies

        Strictly Necessary Cookie should be enabled at all times so that we can save your preferences for cookie settings.

        If you disable this cookie, we will not be able to save your preferences. This means that every time you visit this website you will need to enable or disable cookies again.

        3rd Party Cookies

        This website uses Google Analytics to collect anonymous information such as the number of visitors to the site, and the most popular pages.

        Keeping this cookie enabled helps us to improve our website.

        Please enable Strictly Necessary Cookies first so that we can save your preferences!

        Cookie Policy

        More information about our Cookie Policy