Research & Literature

Frequent misdiagnosis of adult polyglucosan body disease.

Hellmann MA, Kakhlon O, Landau EH, et al.

Journal of neurology 2015; (262(10)):2346-51 doi:10.1007/s00415-015-7859-4.

A novel mouse model that recapitulates adult-onset glycogenosis type 4.

Orhan Akman H, Emmanuele V, Kurt YG, et al.

Human molecular genetics 2015; (24(23)):6801-10 doi:10.1093/hmg/ddv385.

ANESTHESIA MANAGEMENT IN AN INFANT WITH GLYCOGEN STORAGE DISEASE TYPE II (POMPE DISEASE).

Al Atassi A, Al Zughaibi N, Naeim A, et al.

Middle East journal of anaesthesiology 2015; (23(3)):343-6.

A novel GBE1 gene variant in a child with glycogen storage disease type IV.

Said SM, Murphree MI, Mounajjed T, et al.

Human pathology 2016; (54()):152-6.

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review.

Iijima H, Iwano R, Tanaka Y, et al.

Molecular genetics and metabolism reports 2018; (17()):31-37 doi:10.1016/j.ymgmr.2018.09.001.

Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV.

Sandhu T, Polan M, Yu Z, et al.

JIMD reports 2019; (45()):51-55 doi:10.1007/8904_2018_142.

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

Schene IF, Korenke CG, Huidekoper HH, et al.

JIMD reports 2019; (45()):99-104 doi:10.1007/8904_2018_148.

Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis.

Chen ZY, Liu YP, Zheng GJ

Annals of hepatology 2018; (17(6)):903-905 doi:10.5604/01.3001.0012.7189.

Molecular diagnosis of glycogen storage disease type I: a review.

Beyzaei Z, Geramizadeh B

EXCLI journal 2019; (18()):30-46.

Update on polyglucosan storage diseases.

Cenacchi G, Papa V, Costa R, et al.

Virchows Archiv : an international journal of pathology 2019; (475(6)):671-686 doi:10.1007/s00428-019-02633-6.

Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient.

Ndugga-Kabuye MK, Maleszewski J, Chanprasert S, Smith KD

BMJ case reports 2019; (12(9)) doi:10.1136/bcr-2019-230068.

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.

Ichimoto K, Fujisawa T, Shimura M, et al.

Molecular genetics and metabolism reports 2020; (24()):100601 doi:10.1016/j.ymgmr.2020.100601.

Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging.

Lyo S, Miles J, Meisner J, Guelfguat M

European heart journal. Case reports 2020; (4(3)):1-6 doi:10.1093/ehjcr/ytaa078.

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.

Meena NK, Raben N

Biomolecules 2020; (10(9)) doi:10.3390/biom10091339.

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.

Chown EE, Wang P, Zhao X, et al.

Annals of clinical and translational neurology 2020; (7(11)):2186-2198 doi:10.1002/acn3.51211.

Hallmarks of oxidative stress in the livers of aged mice with mild glycogen branching enzyme deficiency.

Malinska D, Testoni G, Duran J, et al.

Archives of biochemistry and biophysics 2020; (695()):108626 doi:10.1016/j.abb.2020.108626.

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

Souza PVS, Badia BML, Farias IB, et al.

Journal of inherited metabolic disease 2021; (44(3)):534-543 doi:10.1002/jimd.12325.

Intrasarcoplasmic Polyglucosan Inclusions in Heart and Skeletal Muscles of Long-Finned Pilot Whales (Globicephala melas) may be Age-Related.

Longué CM, Dagleish MP, McGovern G, et al.

Journal of comparative pathology 2020; (181()):18-25 doi:10.1016/j.jcpa.2020.09.011.

The potential of dietary treatment in patients with glycogen storage disease type IV.

Derks TGJ, Peeks F, de Boer F, et al.

Journal of inherited metabolic disease 2021; (44(3)):693-704 doi:10.1002/jimd.12339.

Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder.

Johal J, Castro Apolo R, Johnson MW, et al.

Hospital practice (1995) 2022; (50(3)):244-250 doi:10.1080/21548331.2021.1874182.

Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.

Carvalho A, Nunes J, Taipa R, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021; (42(7)):2955-2959 doi:10.1007/s10072-021-05096-3.

Liver Transplantation for Glycogen Storage Disease Type IV.

Liu M, Sun LY

Frontiers in pediatrics 2021; (9()):633822 doi:10.3389/fped.2021.633822.

Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency.

Malinska D, Testoni G, Bejtka M, et al.

Biochimie 2021; (186()):28-32 doi:10.1016/j.biochi.2021.04.001.

Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.

Thomsen C, Malfatti E, Jovanovic A, et al.

Neuropathology and applied neurobiology 2022; (48(1)):e12761 doi:10.1111/nan.12761.

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.

Nitschke S, Sullivan MA, Mitra S, et al.

Brain : a journal of neurology 2022; (145(7)):2361-2377 doi:10.1093/brain/awac017.

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models.

Gumusgoz E, Kasiri S, Guisso DR, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2022; (19(3)):982-993 doi:10.1007/s13311-022-01218-7.

Assessment of auditory functions in patients with hepatic glycogen storage diseases.

Şanlı ME, Gökay NY, Tutar H, et al.

The Turkish journal of pediatrics 2022; (64(4)):658-670.

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.

Kiely BT, Koch RL, Flores L, et al.

Frontiers in genetics 2022; (13()):992406 doi:10.3389/fgene.2022.992406.

Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene.

Li Y, Tian C, Huang S, et al.

Frontiers in genetics 2022; (13()):1033944 doi:10.3389/fgene.2022.1033944.

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

Koch RL, Soler-Alfonso C, Kiely BT, et al.

Molecular genetics and metabolism 2023; (138(3)):107525 doi:10.1016/j.ymgme.2023.107525.

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.

Wilke MVMB, de Oliveira BM, Starosta RT, et al.

Biomedicines 2023; (11(2)) doi:10.3390/biomedicines11020363.

Effects of Trehalose Administration in Patients with Mucopolysaccharidosis Type III.

Mobini M, Radbakhsh S, Kubaski F, et al.

Current medicinal chemistry 2024; (31(20)):3033-3042 doi:10.2174/0929867330666230406102555.

Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.

Oliwa A, Langlands G, Sarkozy A, et al.

Neuromuscular disorders : NMD 2023; (33(9)):98-105 doi:10.1016/j.nmd.2023.07.004.

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.

Lefèvre CR, Collardeau-Frachon S, Streichenberger N, et al.

Journal of inherited metabolic disease 2024; (47(2)):255-269 doi:10.1002/jimd.12692.

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.

Abraham JR, Allen FM, Barnard J, et al.

Frontiers in neurology 2023; (14()):1261125 doi:10.3389/fneur.2023.1261125.

Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.

Mitra S, Chen B, Shelton JM, et al.

Acta neuropathologica 2024; (147(1)):46 doi:10.1007/s00401-024-02698-x.

Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV.

Crane HM, Asher S, Conway L, et al.

American journal of medical genetics. Part A 2024; (194(7)):e63574 doi:10.1002/ajmg.a.63574.

Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV.

Naito C, Kosar K, Kishimoto E, et al.

Molecular genetics and metabolism reports 2024; (39()):101069 doi:10.1016/j.ymgmr.2024.101069.

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.

Koch RL, Kiely BT, Choi SJ, et al.

JCI insight 2024; (9(12)).

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.

Nitschke S, Montalbano AP, Whiting ME, et al.

The EMBO journal 2025; (44(5)):1379-1413 doi:10.1038/s44318-024-00339-3.

Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia.

Harsono IW, Ariani Y, Benyamin B, et al.

Data in brief 2025; (58()):111231 doi:10.1016/j.dib.2024.111231.

Adult polyglucosan body disease: ultrarare but commonly misdiagnosed.

Caiza-Zambrano F, Aldecoa M, Rugilo C, et al.

Practical neurology 2025; (25(4)):366-369 doi:10.1136/pn-2024-004429.

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.

Zhu J, Yu HP, Zou J, et al.

Frontiers in genetics 2025; (16()):1514610 doi:10.3389/fgene.2025.1514610.

Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.

Thomas R, Miyoshi E, Akman HO, et al.

Nucleic acids research 2025; (53(13)) doi:10.1093/nar/gkaf658.

Congenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy.

Llanora GV, Kam SPR, Chang KTE, Jitendrakumar SV

BMJ case reports 2025; (18(8)) doi:10.1136/bcr-2025-266228.

Noninfectious endocarditis as a novel cardiac manifestation of glycogen storage disease type IV: a case report.

Kingdon T, Ganta S, Shayan K, et al.

Translational pediatrics 2025; (14(10)):2841-2849 doi:10.21037/tp-2025-393.

Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.

Taylor A, Yacob D, Fung B, et al.

Molecular genetics and metabolism 2025; (146(4)):109293 doi:10.1016/j.ymgme.2025.109293.

Systemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease Type IV.

Choi SJ, Koch RL, Gibson RA, et al.

The American journal of pathology 2026; (196(3)):731-744 doi:10.1016/j.ajpath.2025.11.006.

Biopsy-Proven Reversal of F4 Cirrhosis in Classic Hepatic Glycogen Storage Disease Type IV: A 42-Year Follow-Up Without Transplantation.

Mino M, Mori N, Shimomura Y, et al.

Hepatology research : the official journal of the Japan Society of Hepatology 2025; doi:10.1111/hepr.70084.