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Last update 08 May 2025

Glycogen Storage Disease Type IV

Last update 08 May 2025

Basic Info

Synonyms

1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency, 4ｶﾞﾀﾄｳｹﾞﾝﾁｮｿﾞｳｼｮｳｶﾞｲ, AMYLOPECTINOSIS

+ [91]

Introduction

An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.

Drugs associated with Glycogen Storage Disease Type IV

Triheptanoin

Target-

Mechanism

Fatty acid replacements [+1]

Active Org.

Ultragenyx Pharmaceutical, Inc.

Originator Org.

Baylor Research Institute

Active Indication

Lipid Metabolism Disorders [+4]

Inactive Indication

Amyotrophic Lateral Sclerosis [+19]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

United States

First Approval Date30 Jun 2020

GHF-201

Target

LAMP-1

Mechanism

LAMP-1 inhibitors

Active Org.

Golden Heart Flower Ltd.

Originator Org.

Golden Heart Flower Ltd.

Active Indication

Polyglucosan Body Disease, Adult Form [+1]

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

4s3-006

Target-

Mechanism-

Active Org.-

Originator Org.

Valerion Therapeutics LLC

Active Indication-

Inactive Indication

Glycogen Storage Disease Type IV

Drug Highest PhasePending

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Glycogen Storage Disease Type IV

NCT06852612

/ RecruitingNot Applicable

Dietary Treatment Strategies and Metabolic Control in Glycogen Storage Disease Type I (GSD-DIET)

The present project will specifically assess metabolic effects of dietary interventions with controlled intake of fructose and fructose/galactose in GSDI, with the aim to provide evidence whether relaxed dietary restrictions of fructose and galactose may be justified in treatment recommendations at least for adults, which would considerably enlarge food choice in everyday life of the patients with an expected positive impact on the quality of life of patients with this rare disorder.

Start Date24 Apr 2025

Sponsor / Collaborator

Insel Gruppe AG

[+4]

NCT02385162

/ WithdrawnNot Applicable

Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Start Date20 Aug 2018

Sponsor / Collaborator-

NCT02635269

/ Unknown statusNot ApplicableIIT

Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy

This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.

Start Date01 Jan 2016

Sponsor / Collaborator

Rigshospitalet

100 Clinical Results associated with Glycogen Storage Disease Type IV

100 Translational Medicine associated with Glycogen Storage Disease Type IV

0 Patents (Medical) associated with Glycogen Storage Disease Type IV

338

Literatures (Medical) associated with Glycogen Storage Disease Type IV

01 Apr 2025·Veterinary Clinics of North America: Equine Practice

Genetics of Muscle Disease

Review

Author: Finno, Carrie J

In the field of equine muscle disorders, many conditions have a genetic basis. Therefore, genetic testing is an important part of the diagnostic evaluation. Validated genetic tests are currently available for 5 equine muscle disorders: hyperkalemic periodic paralysis, malignant hyperthermia, glycogen branching enzyme disease, type 1 polysaccharide storage myopathy, and myosin heavy chain myopathy. These diseases should be tested for in the appropriate breeds with clinical signs of disease or as part of breeding management. Genetic testing in veterinary medicine is not regulated, and therefore, any new genetic test offered in horses should be carefully evaluated and confirmed to be a valid test before use.

01 Feb 2025·Data in Brief

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

Article

Author: Pujianto, Dwi Ari ; Hafifah, Cut Nurul ; Benyamin, Beben ; Prawitasari, Titis ; Harsono, Ivan William ; Fadilah, Fadilah ; Ariani, Yulia

Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. Early diagnosis of GSD IV is challenging due to non-specific symptoms, such as liver and spleen enlargement, which can overlap with other hematologic and hepatobiliary disorders. The non-specific clinical finding (phenotype) and identification of novel mutation adds the complexity of diagnosing and confirming rare disease. This often results in delayed diagnosis, typically 5.6 to 7.6 years later, with only 50% of cases being diagnosed, while the remaining cases are classified as undiagnosed rare diseases due to either the absence of identifiable potential variants or the presence of novel variants requiring further functional studies to confirm their pathogenicity. Proband and trio whole exome sequencing analysis remains a cost-effective and widely available method for diagnosing rare diseases detecting between 21 and 40% of cases. We present a trio (familial) exome sequences data from a patient with Glycogen Storage Disease IV from Indonesia. The clean and adapter trimmed FASTQ files of these sequences are available under BioProject accession number PRJNA1077459 with Sequence Read Archive accession numbers SRR27997290-SRR27997292.

01 Nov 2024·The Journal of Immunology

N-Glycan Branching Regulates BTLA Opposite to PD-1 to Limit T Cell Hyperactivity Induced by Branching Deficiency

Article

Author: Balakrishnan, Aswath ; Dang, Justin ; Zhou, Raymond W ; Sánchez, Christofer Daniel ; Demetriou, Michael ; Mkhikian, Haik ; Mortales, Christie-Lynn ; Saryan, Hayk

AbstractN-glycan branching is a potent and multifaceted negative regulator of proinflammatory T cell and B cell function. By promoting multivalent galectin–glycoprotein lattice formation at the cell surface, branching regulates clustering and/or endocytosis of the TCR complex (TCR+CD4/CD8), CD45, CD25, BCR, TLR2 and TLR4 to inhibit T cell and B cell activation/proliferation and proinflammatory TH1 and TH17 over TH2 and induced T regulatory cell responses. In addition, branching promotes cell surface retention of the growth inhibitory receptor CTLA-4. However, the role of N-glycan branching in regulating cell surface levels of other checkpoint receptors such as BTLA (B and T lymphocyte attenuator) and PD-1 (programmed cell death protein 1) is unknown. In this study, we report that whereas branching significantly enhances PD-1 cell surface expression by reducing loss from endocytosis, the opposite occurs with BTLA in both T cells and B cells. T cell hyperactivity induced by branching deficiency was opposed by BTLA ligation proportional to increased BTLA expression. Other members of the BTLA/HVEM (herpesvirus entry mediator) signaling axis in T cells, including HVEM, LIGHT, and CD160, are largely unaltered by branching. Thus, branching-mediated endocytosis of BTLA is opposite of branching-induced inhibition of PD-1 endocytosis. In this manner, branching deficiency–induced upregulation of BTLA appears to serve as a checkpoint to limit extreme T cell hyperactivity and proinflammatory outcomes in T cells with low branching.

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Glycogen Storage Disease Type IV

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