Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Autor: Koch RL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address: rebecca.koch@duke.edu., Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kiely BT; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Asai A; Department of Pediatrics, University of Cincinnati Medical Center, Cincinnati, OH, USA; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Smith AL; Division of Urology, Department of Surgery, University of Pennsylvania Health System, Philadelphia, PA, USA., Bali DS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Kang PB; Paul and Sheila Wellstone Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA., Landstrom AP; Division of Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA; Department of Cell Biology, Duke University School of Medicine, Durham, NC, USA., Akman HO; Department of Neurology, Columbia University Irving Medical Center, New York City, NY, USA., Burrow TA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Orthmann-Murphy JL; Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA., Goldman DS; Adult Polyglucosan Body Disease Research Foundation, Brooklyn, NY, USA., Pendyal S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., El-Gharbawy AH; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Austin SL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Case LE; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA; Doctor of Physical Therapy Division, Department of Orthopedic Surgery, Duke University School of Medicine, Durham, NC, USA., Schiffmann R; Texas Neurology Group, Dallas, TX, USA., Hirano M; Department of Neurology, Columbia University Irving Medical Center, New York City, NY, USA., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Jazyk: angličtina
Zdroj: Molecular genetics and metabolism [Mol Genet Metab] 2023 Mar; Vol. 138 (3), pp. 107525. Date of Electronic Publication: 2023 Jan 25.
DOI: 10.1016/j.ymgme.2023.107525
Abstrakt: Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. GSD IV is characterized by a remarkable degree of phenotypic heterogeneity with presentations in utero, during infancy, early childhood, adolescence, or middle to late adulthood. The clinical continuum encompasses hepatic, cardiac, muscular, and neurologic manifestations that range in severity. The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. There are currently no consensus guidelines for the diagnosis and management of these patients, resulting in high rates of misdiagnosis, delayed diagnosis, and lack of standardized clinical care. To address this, a group of experts from the United States developed a set of recommendations for the diagnosis and management of all clinical phenotypes of GSD IV, including APBD, to support clinicians and caregivers who provide long-term care for individuals with GSD IV. The educational resource includes practical steps to confirm a GSD IV diagnosis and best practices for medical management, including (a) imaging of the liver, heart, skeletal muscle, brain, and spine, (b) functional and neuromusculoskeletal assessments, (c) laboratory investigations, (d) liver and heart transplantation, and (e) long-term follow-up care. Remaining knowledge gaps are detailed to emphasize areas for improvement and future research.
(Published by Elsevier Inc.)
Databáze: MEDLINE
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