TY - JOUR
T1 - Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease
T2 - A clinical practice resource
AU - Koch, Rebecca L.
AU - Soler-Alfonso, Claudia
AU - Kiely, Bridget T.
AU - Asai, Akihiro
AU - Smith, Ariana L.
AU - Bali, Deeksha S.
AU - Kang, Peter B.
AU - Landstrom, Andrew P.
AU - Akman, H. Orhan
AU - Burrow, T. Andrew
AU - Orthmann-Murphy, Jennifer L.
AU - Goldman, Deberah S.
AU - Pendyal, Surekha
AU - El-Gharbawy, Areeg H.
AU - Austin, Stephanie L.
AU - Case, Laura E.
AU - Schiffmann, Raphael
AU - Hirano, Michio
AU - Kishnani, Priya S.
N1 - Publisher Copyright:
© 2023
PY - 2023/3
Y1 - 2023/3
N2 - 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.
AB - 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.
KW - Adult polyglucosan body disease
KW - Andersen disease
KW - Clinical practice guideline
KW - Diagnosis guideline
KW - Glycogen branching enzyme
KW - Glycogen storage disease type IV
KW - Management guideline
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UR - http://www.scopus.com/inward/citedby.url?scp=85147963521&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2023.107525
DO - 10.1016/j.ymgme.2023.107525
M3 - Review article
C2 - 36796138
AN - SCOPUS:85147963521
SN - 1096-7192
VL - 138
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 3
M1 - 107525
ER -