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

Publication ,  Journal Article
Koch, RL; Soler-Alfonso, C; Kiely, BT; Asai, A; Smith, AL; Bali, DS; Kang, PB; Landstrom, AP; Akman, HO; Burrow, TA; Orthmann-Murphy, JL ...
Published in: Mol Genet Metab
March 2023

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.

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Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

March 2023

Volume

138

Issue

3

Start / End Page

107525

Location

United States

Related Subject Headings

  • Neurodegenerative Diseases
  • Humans
  • Glycogen Storage Disease Type IV
  • Glycogen Storage Disease
  • Glycogen
  • Genetics & Heredity
  • Child, Preschool
  • 1103 Clinical Sciences
 

Citation

APA
Chicago
ICMJE
MLA
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Koch, R. L., Soler-Alfonso, C., Kiely, B. T., Asai, A., Smith, A. L., Bali, D. S., … Kishnani, P. S. (2023). Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Mol Genet Metab, 138(3), 107525. https://doi.org/10.1016/j.ymgme.2023.107525
Koch, Rebecca L., Claudia Soler-Alfonso, Bridget T. Kiely, Akihiro Asai, Ariana L. Smith, Deeksha S. Bali, Peter B. Kang, et al. “Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.Mol Genet Metab 138, no. 3 (March 2023): 107525. https://doi.org/10.1016/j.ymgme.2023.107525.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, et al. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Mol Genet Metab. 2023 Mar;138(3):107525.
Koch, Rebecca L., et al. “Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.Mol Genet Metab, vol. 138, no. 3, Mar. 2023, p. 107525. Pubmed, doi:10.1016/j.ymgme.2023.107525.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Mol Genet Metab. 2023 Mar;138(3):107525.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

March 2023

Volume

138

Issue

3

Start / End Page

107525

Location

United States

Related Subject Headings

  • Neurodegenerative Diseases
  • Humans
  • Glycogen Storage Disease Type IV
  • Glycogen Storage Disease
  • Glycogen
  • Genetics & Heredity
  • Child, Preschool
  • 1103 Clinical Sciences