Priya S Kishnani1, Jennifer Goldstein2, Stephanie L Austin1, Pamela Arn3, Bert Bachrach4, Deeksha S Bali1, Wendy K Chung5, Areeg El-Gharbawy6, Laurie M Brown7, Stephen Kahler8, Surekha Pendyal1, Katalin M Ross9, Laurie Tsilianidis10, David A Weinstein11, Michael S Watson12. 1. Duke University School of Medicine, Durham, NC, USA. 2. University of North Carolina School of Medicine, Chapel Hill, NC, USA. 3. Nemours Children's Clinic, Jacksonville, FL, USA. 4. University of Missouri Health System, Columbia, MO, USA. 5. Columbia University Medical Center, New York, NY, USA. 6. University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. 7. University of Florida College of Medicine, Gainesville, FL, USA. 8. Arkansas Children's Hospital, Little Rock, AR, USA. 9. Connecticut Children's Medical Center, Hartford, CT, USA. 10. Cleveland Clinic, Cleveland, OH, USA. 11. University of Connecticut School of Medicine, Connecticut Children's Hospital, Hartford, CT, USA. 12. American College of Medical Genetics and Genomics, Bethesda, MD, USA. mwatson@acmg.net.
Abstract
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). Glycogen storage disease types VI and IX have a wide spectrum of clinical manifestations and often cannot be distinguished from each other, or from other liver GSDs, on clinical presentation alone. Individuals with GSDs VI and IX can present with hepatomegaly with elevated serum transaminases, ketotic hypoglycemia, hyperlipidemia, and poor growth. This guideline for the management of GSDs VI and IX was developed as an educational resource for health-care providers to facilitate prompt and accurate diagnosis and appropriate management of patients. METHODS: A national group of experts in various aspects of GSDs VI and IX met to review the limited evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management. Evidence bases for these rare disorders are largely based on expert opinion, particularly when targeted therapeutics that have to clear the US Food and Drug Administration (FDA) remain unavailable. RESULTS: This management guideline specifically addresses evaluation and diagnosis across multiple organ systems involved in GSDs VI and IX. Conditions to consider in a differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, and prenatal diagnosis are addressed. CONCLUSION: A guideline that will facilitate the accurate diagnosis and optimal management of patients with GSDs VI and IX was developed. This guideline will help health-care providers recognize patients with GSDs VI and IX, expedite diagnosis, and minimize adverse sequelae from delayed diagnosis and inappropriate management. It will also help identify gaps in scientific knowledge that exist today and suggest future studies.
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). Glycogen storage disease types VI and IX have a wide spectrum of clinical manifestations and often cannot be distinguished from each other, or from other liver GSDs, on clinical presentation alone. Individuals with GSDs VI and IX can present with hepatomegaly with elevated serum transaminases, ketotic hypoglycemia, hyperlipidemia, and poor growth. This guideline for the management of GSDs VI and IX was developed as an educational resource for health-care providers to facilitate prompt and accurate diagnosis and appropriate management of patients. METHODS: A national group of experts in various aspects of GSDs VI and IX met to review the limited evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management. Evidence bases for these rare disorders are largely based on expert opinion, particularly when targeted therapeutics that have to clear the US Food and Drug Administration (FDA) remain unavailable. RESULTS: This management guideline specifically addresses evaluation and diagnosis across multiple organ systems involved in GSDs VI and IX. Conditions to consider in a differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, and prenatal diagnosis are addressed. CONCLUSION: A guideline that will facilitate the accurate diagnosis and optimal management of patients with GSDs VI and IX was developed. This guideline will help health-care providers recognize patients with GSDs VI and IX, expedite diagnosis, and minimize adverse sequelae from delayed diagnosis and inappropriate management. It will also help identify gaps in scientific knowledge that exist today and suggest future studies.
Entities:
Keywords:
diagnostic guidelines; glycogen storage disease type IX; glycogen storage disease type VI; glycogen storage diseases; management guidelines
Authors: Katalin M Ross; Iris A Ferrecchia; Kathryn R Dahlberg; Monika Dambska; Patrick T Ryan; David A Weinstein Journal: Adv Nutr Date: 2020-03-01 Impact factor: 8.701
Authors: Yan Liang; Caiqi Du; Hong Wei; Cai Zhang; Min Zhang; Minghui Hu; Feng Fang; Xiaoping Luo Journal: Mol Genet Genomic Med Date: 2020-08-08 Impact factor: 2.183