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

Koch, Rebecca L.; Soler‐Alfonso, Claudia; Kiely, Bridget T.; Asai, Akira; Smith, Ariana L.; Bali, Deeksha; Kang, Peter B.; Landstrom, Andrew P.; Akman, Hasan O.; Burrow, T.; Orthmann-Murphy, Jennifer; Goldman, Deberah S.; Pendyal, Surekha; El-Gharbawy, Areeg; Austin, Stephanie; Case, Laura E.; Schiffmann, Raphael; Hirano, Michio; Kishnani, Priya S.

doi:10.1016/j.ymgme.2023.107525

Cited by 14 publications

(34 citation statements)

References 141 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A summary of management for all GSD IV phenotypes, including APBD, was previously published. 2 Additionally, a recent review of all published cases with GSD IV that had symptom onset before the age of 25 years (N = 179) evaluated the extent of multisystem tissue involvement and revealed the pitfalls of the traditional subtype classification system. 113 Rather than classifying patients into discrete hepatic or neuromuscular subtypes, Kiely et al 113 recognized that GBE deficiency can cause a spectrum of manifestations across multiple tissue systems and affected individuals may exhibit differing degrees of hepatic, neuromuscular, and/or cardiac involvement over time.…”

Section: Gsd IIImentioning

confidence: 99%

“…The clinical spectrum of GSD IV is heterogeneous and encompasses severe neurological and neuromuscular manifestations, myopathy, cardiomyopathy, and progressive liver fibrosis, and can present in the neonatal period, infancy, early childhood, adolescence, or adulthood (Adult Polyglucosan Body Disease [APBD]). A summary of management for all GSD IV phenotypes, including APBD, was previously published 2 . Additionally, a recent review of all published cases with GSD IV that had symptom onset before the age of 25 years ( N = 179) evaluated the extent of multisystem tissue involvement and revealed the pitfalls of the traditional subtype classification system 113 .…”

Section: Natural History and Animal Models For The Gsdsmentioning

confidence: 99%

“…Glycogen metabolism involves a series of coordinated enzymatic reactions that includes the synthesis and breakdown of glycogen polymers (Supplementary Figure S1) 1 . Deficiencies in any of the enzymes or transport proteins involved in the glycogen synthesis and degradation pathways can result in a glycogen storage disorder (GSD) (Table 1; types 0a, 0b, Ia, Ib, II, III, IV, V, VI, IX) 2,3 . In addition, deficiencies in enzymes whose actions are external to the canonical glycogen metabolism pathways can result in excessive glycogen accumulation and thus are classified as a GSD (types VII, X, XI‐LDHA, XI‐FBS, XII, XIII) 2,4 .…”

Section: Introductionmentioning

confidence: 99%

“…Deficiencies in any of the enzymes or transport proteins involved in the glycogen synthesis and degradation pathways can result in a glycogen storage disorder (GSD) (Table 1; types 0a, 0b, Ia, Ib, II, III, IV, V, VI, IX) 2,3 . In addition, deficiencies in enzymes whose actions are external to the canonical glycogen metabolism pathways can result in excessive glycogen accumulation and thus are classified as a GSD (types VII, X, XI‐LDHA, XI‐FBS, XII, XIII) 2,4 . Furthermore, there are several disorders that are classified as both a GSD and another disorder, including Lafora disease and RBCK1 deficiency which are polyglucosan storage disorders, and Pompe and Danon disease which are lysosomal storage disorders.…”

Section: Introductionmentioning

confidence: 99%

“…actions are external to the canonical glycogen metabolism pathways can result in excessive glycogen accumulation and thus are classified as a GSD (types VII, X, XI-LDHA, XI-FBS, XII, XIII). 2,4 Furthermore, there are several disorders that are classified as both a GSD and another disorder, including Lafora disease and RBCK1 deficiency which are polyglucosan storage disorders, and Pompe and Danon disease which are lysosomal storage disorders. Therefore, the list of GSDs included in Table 1 is selective and not considered to be a comprehensive list of all known GSDs.…”

mentioning

confidence: 99%

See 4 more Smart Citations

Gene therapy for glycogen storage diseases

Koeberl

Koch

Lim

et al. 2023

J of Inher Metab Disea

Self Cite

View full text Add to dashboard Cite

Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and degradation of glycogen. This literature review summarizes the development of gene therapy for the GSDs. The abnormal accumulation of glycogen and deficiency of glucose production in GSDs lead to unique symptoms based upon the enzyme step and tissues involved, such as liver and kidney involvement associated with severe hypoglycemia during fasting and the risk of long‐term complications including hepatic adenoma/carcinoma and end stage kidney disease in GSD Ia from glucose‐6‐phosphatase deficiency, and cardiac/skeletal/smooth muscle involvement associated with myopathy +/− cardiomyopathy and the risk for cardiorespiratory failure in Pompe disease. These symptoms are present to a variable degree in animal models for the GSDs, which have been utilized to evaluate new therapies including gene therapy and genome editing. Gene therapy for Pompe disease and GSD Ia has progressed to Phase I and Phase III clinical trials, respectively, and are evaluating the safety and bioactivity of adeno‐associated virus vectors. Clinical research to understand the natural history and progression of the GSDs provides invaluable outcome measures that serve as endpoints to evaluate benefits in clinical trials. While promising, gene therapy and genome editing face challenges with regard to clinical implementation, including immune responses and toxicities that have been revealed during clinical trials of gene therapy that are underway. Gene therapy for the glycogen storage diseases is under development, addressing an unmet need for specific, stable therapy for these conditions.

show abstract

Section: Gsd IIImentioning

confidence: 99%

Section: Natural History and Animal Models For The Gsdsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

See 3 more Smart Citations

Gene therapy for glycogen storage diseases

Koeberl

Koch

Lim

et al. 2023

J of Inher Metab Disea

Self Cite

View full text Add to dashboard Cite

show abstract

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

Lefèvre,

Collardeau‐Frachon,

Streichenberger

et al. 2023

J of Inher Metab Disea

View full text Add to dashboard Cite

Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4‐alpha‐glucan branching enzyme) deficiency secondary to pathogenic variants on GBE1 gene. The incidence is evaluated to 1:600 000 to 1:800 000 of live births. GBE deficiency leads to an excessive deposition of structurally abnormal, amylopectin‐like glycogen in affected tissues (liver, skeletal muscle, heart, nervous system, etc.). Diagnosis is often guided by histological findings and confirmed by GBE activity deficiency and molecular studies. Severe neuromuscular forms of GSD IV are very rare and of disastrous prognosis. Identification and characterization of these forms are important for genetic counseling for further pregnancies. Here we describe clinical, histological, enzymatic, and molecular findings of 10 cases from 8 families, the largest case series reported so far, of severe neuromuscular forms of GSD IV along with a literature review. Main antenatal features are: fetal akinesia deformation sequence or arthrogryposis/joint contractures often associated with muscle atrophy, decreased fetal movement, cystic hygroma, and/or hydrops fetalis. If pregnancy is carried to term, the main clinical features observed at birth are severe hypotonia and/or muscle atrophy, with the need for mechanical ventilation, cardiomyopathy, retrognathism, and arthrogryposis. All our patients were stillborn or died within 1 month of life. In addition, we identified five novel GBE1 variants.

show abstract

Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care

Rossi,

Simeoli,

Pivonello

et al. 2024

Rev Endocr Metab Disord

View full text Add to dashboard Cite

Hepatic glycogen storage diseases constitute a group of disorders due to defects in the enzymes and transporters involved in glycogen breakdown and synthesis in the liver. Although hypoglycemia and hepatomegaly are the primary manifestations of (most of) hepatic GSDs, involvement of the endocrine system has been reported at multiple levels in individuals with hepatic GSDs. While some endocrine abnormalities (e.g., hypothalamic‑pituitary axis dysfunction in GSD I) can be direct consequence of the genetic defect itself, others (e.g., osteopenia in GSD Ib, insulin-resistance in GSD I and GSD III) may be triggered by the (dietary/medical) treatment. Being aware of the endocrine abnormalities occurring in hepatic GSDs is essential (1) to provide optimized medical care to this group of individuals and (2) to drive research aiming at understanding the disease pathophysiology. In this review, a thorough description of the endocrine manifestations in individuals with hepatic GSDs is presented, including pathophysiological and clinical implications.

show abstract

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

Cited by 14 publications

References 141 publications

Gene therapy for glycogen storage diseases

Gene therapy for glycogen storage diseases

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

Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care

Contact Info

Product

Resources

About