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Cited by 100Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusMetabolism and Genetic Disorders

Glycogen Storage Diseases: An Update

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Gümüş, Ersin, Özen, Hasan·2023·World Journal of Gastroenterology
DOI 10.3748/wjg.v29.i25.3932PMC PMC10354582
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Abstract

These highlights do not include all the information needed to use LUMIZYME safely and effectively.See full prescribing information for LUMIZYME. LUMIZYME (alglucosidase alfa) for injection, for intravenous use Initial U.S. Approval: 2010 ------------------------------INDICATIONS AND USAGE----------------------------LUMIZYME (alglucosidase alfa) is a lysosomal glycogen-specific enzyme indicated for patients 8 years and older with late (non-infantile) onset Pompe disease (GAA deficiency) who do not have evidence of cardiac hypertrophy.The safety and efficacy of LUMIZYME have not been evaluated in controlled clinical trials in infantile-onset patients, or in late (non-infantile) onset patients less than 8 years of age (1).-----------------------• The recommended dosage of LUMIZYME is 20 mg/kg body weight administered every 2 weeks as an intravenous infusion (2). ------------------------DOSAGE AND ADMINISTRATION- -----------------------DOSAGE FORMS AND STRENGTHS-----------------------• Dosage form: Lyophilized powder for solution for intravenous infusion (3)• Dosage strength: 5 mg/mL (3) ------------------------------CONTRAINDICATIONS---------------------------------• None (4). --------------------------WARNINGS AND PRECAUTIONS--------------------------• Life-threatening anaphylactic reactions have been observed in some patients during LUMIZYME infusions.Ensure that appropriate medical support measures, including cardiopulmonary resuscitation equipment are readily available when LUMIZYME is administered (5.1).• If severe allergic or anaphylactic reactions occur, consider immediate discontinuation of the administration of LUMIZYME and initiate appropriate medical treatment.(5.1).• Severe cutaneous and systemic immune mediated reactions can occur with alglucosidase alfa.Therefore, monitor patients for the development of systemic immune complex-mediated reactions involving skin and other organs while receiving LUMIZYME (5.2).- --------------------------------ADVERSE REACTIONS---------------------------------• The most frequently reported adverse reactions (≥5%) in clinical studies were infusion reactions and included: anaphylaxis, urticaria, diarrhea, vomiting, dyspnea, pruritus, rash/erythema, pharyngolaryngeal pain, neck pain, hypoacusis, flushing/feeling hot, pain in extremity, fall and chest discomfort (6.1). To report SUSPECTED ADVERSE REACTIONS, contact Genzyme at 1-800-745-4447 or FDA at 1-800-FDA-1088 or www.fda.gov/medwatch -------------------------USE IN SPECIFIC POPULATIONS--------------------------• Pregnancy: Physicians are encouraged to enroll pregnant patients in the Pompe Registry (8.1).• Nursing Mothers: Physicians are encouraged to enroll nursing patients in the Pompe Registry (8.3).• Pediatrics: LUMIZYME is not for use in patients with infantile-onset Pompe disease or late (non-infantile) onset Pompe disease who are less than 8 years of age.The safety and efficacy of LUMIZYME have not been evaluated in controlled clinical trials in these patients (8.4).

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  • GSD type 0 is caused by a lack of hepatic glycogen due to deficiency in glycogen synthase 1 (type 0a) or glycogen synthase 2 (type 0b), which catalyzes formation of an oligosaccharide primer essential for glycogen synthesis in the liver.

    “Unlike other types of GSDs, GSD type 0 is caused by a lack of-rather than accumulation of-hepatic glycogen. This disorder is caused by either a deficiency in glycogen synthase 1 (enzymatic isoform in cardiac and skeletal muscle; GSD type 0a) or a deficiency in glycogen synthase 2 (GSD type 0b), which catalyzes the formation of an oligosaccharide primer essential for glycogen synthesis in the liver”

    From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [36]

    The GSD-0 section supports the claim that GSD-0 involves markedly reduced hepatic glycogen. But Table 1 (Introduction) assigns the subtypes the other way around: GSD-0a involves liver glycogen synthase (GYS2), while GSD-0b involves muscle glycogen synthase (GYS1). The cited passages do not describe formation of an oligosaccharide primer. (LLM, conf=0.90)

    Checked by a reasoning model — may be wrong.

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  • Glycogen storage diseases have an incidence of <1 in 20,000, are mostly inherited in an autosomal recessive manner, and are characterized by impaired glycogenolysis resulting in glycogen accumulation.

    “Glycogen storage diseases (GSD) have an incidence of &lt;1 in 20,000). Most are inherited in an autosomal recessive manner and are characterized by impaired glycogenolysis resulting in the glycogen accumulation [12,35,36].”

    From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [36]

    The Introduction describes GSDs as inherited disorders of glycogen synthesis or degradation, and its Table 1 lists several autosomal recessive types. It does not give an overall incidence of less than 1 in 20,000; the incidence quoted in the GSD-I section applies only to that type. The claim that GSDs are characterized by impaired glycogenolysis and accumulation is too broad: the GSD-0 section describes impaired synthesis and markedly reduced glycogen stores. Page numbers are unavailable in our copy. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • GDE deficiency results in accumulation of abnormal glycogen molecules and leads to hepatomegaly, fasting ketotic hypoglycemia, and significantly elevated hepatic transaminases and creatinine kinase, with preserved gluconeogenesis.

    “GDE deficiency results in accumulation of abnormal glycogen molecules and leads to hepatomegaly, fasting ketotic hypoglycemia, and significantly elevated hepatic transaminases and creatinine kinase. Like GSD type 0, gluconeogenesis is preserved.”

    From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [36]

    The GSD-III section (page unavailable) links glycogen debranching enzyme deficiency to abnormal glycogen accumulation and reports hepatomegaly, ketotic hypoglycemia, markedly elevated hepatic transaminases, and intact gluconeogenesis. It reports elevated creatine kinase in 81%–94% of cases with muscle involvement, but does not establish significantly elevated creatine kinase as a general consequence of the deficiency. (LLM, conf=0.84)

    Experimental — accuracy not yet measured

  • GSD type III is caused by deficiency in hepatic glycogen debranching enzyme, which is required to hydrolyze α(1→6) glycosidic bonds at glycogen branch points, a step necessary for glycogen phosphorylase to complete glycogen breakdown.

    “Also known as Cori or Forbes disease, GSD Type III is caused by a deficiency in hepatic glycogen debranching enzyme (GDE), which is required to hydrolyze the α (1 → 6) glycosidic bonds present at glycogen branch points. This step is necessary for glycogen phosphorylase to complete glycogen breakdown.”

    From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [36]

    The GSD-III section (page unavailable) identifies Cori/Forbes disease with glycogen debranching-enzyme deficiency and describes the enzyme’s amylo-1,6-glucosidase activity. It does not explicitly describe hydrolysis of α(1→6) bonds or say that debranching is necessary for glycogen phosphorylase to complete breakdown. The section also describes muscle as well as liver involvement, so “hepatic” is too narrow as a general description. (LLM, conf=0.86)

    Experimental — accuracy not yet measured

  • GSD type VI leads to hepatomegaly, fasting ketotic hypoglycemia, and normal creatinine kinase, with preserved gluconeogenesis, and is considered to exhibit a milder disease course compared to other types.

    “This accumulation of hepatic glycogen leads to hepatomegaly, fasting ketotic hypoglycemia, but normal creatinine kinase. Like GSD type 0 and type III, gluconeogenesis is preserved, and management is similar. Of note, this form of GSD is considered to exhibit a milder disease course compared to other types.”

    From Non-Diabetic Hypoglycemia: Evaluation and Management in Adults (2025) · cites this paper as [36]

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Authors
Gümüş, E., & Özen, H.
Affiliations
Hacettepe University (TR)
ORCID
Venue
World Journal of Gastroenterology
Publisher
Baishideng Publishing Group Inc.
Published
2023-07-07
Volume
29
Issue
25
Pages
3932-3963
ISSN
1007-9327 (ISSN-L)
DOI
10.3748/wjg.v29.i25.3932
PMC
PMC10354582
OpenAlex
W4382195894
Cited by
100
References
1
Citations by year
2026: 36 · 2025: 42 · 2024: 20 · 2023: 1 · 2022: 1
FWCI
3.53
Type
journal article
Language
en
Open access
Licence
cc-by-nc
Locations
  • World Journal of Gastroenterology (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
Pompe disease, alglucosidase alfa, lysosomal enzyme replacement therapy, late-onset Pompe disease, anaphylaxis, infusion reactions, drug safety and efficacy, pediatric patients, prescribing information, adverse drug reactions, drug interactions, contraindications
MeSH terms
Glycogen, Glycogen Storage Disease, Humans, Liver, Genetic Therapy, Muscle, Skeletal

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Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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