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PubMed This is a summary of 10 peer-reviewed journal articles Updated
Medical Genetics

Is Glycogen Storage Disease Type IV Hereditary?

At a Glance

Glycogen Storage Disease Type IV (GSD IV) is a hereditary condition passed down in an autosomal recessive pattern. A child must inherit a mutated GBE1 gene from both parents to develop the disease. If both parents are carriers, there is a 25% chance per pregnancy of having an affected child.

In this answer

3 sections

01

The GBE1 Gene

02

Understanding the Chances for Your Children

03

The Role of Genetic Counseling

Yes, Glycogen Storage Disease Type IV (GSD IV) is a hereditary condition. It is passed down through families in what is called an autosomal recessive inheritance pattern. This means that for a child to develop the disease, they must inherit two mutated (changed) copies of the specific gene associated with the condition—one from each parent [1][2].

The GBE1 Gene

GSD IV is caused by mutations in the GBE1 gene [3][4]. This gene provides the body with instructions for making the glycogen-branching enzyme, which is essential for properly storing sugar (glycogen) [5]. When both copies of the GBE1 gene are mutated, the body produces abnormal, poorly branched glycogen that builds up in tissues, causing damage to organs like the liver, heart, and muscles [4][6]. It is important to note that GSD IV can present in several different forms with widely varying severity—from a severe form present before birth to a milder form that develops in adulthood [6][7].

A person who has one mutated copy and one normal copy of the GBE1 gene is called a carrier. Carriers typically do not show symptoms of the disease because their one normal gene produces enough of the working enzyme to keep their body functioning normally [3].

Understanding the Chances for Your Children

If you are a carrier of GSD IV, your future children will only be at risk of having the disease if your reproductive partner is also a carrier [1]. Because GSD IV is a very rare disease, the chances of your partner also being a carrier are generally very low.

If your partner is NOT a carrier:
Your children will not develop GSD IV. However, each child will have a 50% chance of inheriting your mutated gene and being a carrier like you [1].

If your partner IS also a carrier:
If both you and your partner carry a GBE1 mutation, the exact probabilities for each pregnancy are as follows:

  • 25% chance (1 in 4) that the child will inherit a mutated gene from both parents and will have GSD IV.
  • 50% chance (2 in 4) that the child will inherit one mutated gene and one normal gene. They will be a carrier like the parents, but generally will not have symptoms.
  • 25% chance (1 in 4) that the child will inherit two normal genes. They will not have the disease and will not be a carrier.

It is important to remember that these percentages apply to every single pregnancy independently. For example, having one child with GSD IV does not change the 25% risk for the next child.

The Role of Genetic Counseling

Learning about genetic risks can be overwhelming when you are planning a family. If you know you are a carrier, or if there is a history of GSD IV in your family, working with a genetic counselor is highly recommended [7].

A genetic counselor can help arrange carrier screening for your partner, which is usually a simple blood or saliva test, to provide a clear picture of your specific risks [8][9].

If both partners are found to be carriers, a counselor can also discuss family planning options. This may include prenatal genetic testing (checking the baby’s genes during pregnancy) to prepare for any medical needs, or preimplantation genetic testing (testing embryos created through IVF before pregnancy) [2][10].

Common questions in this guide

Is Glycogen Storage Disease Type IV hereditary?
Yes, GSD IV is an inherited condition passed down through families in an autosomal recessive pattern. This means a child must inherit two mutated copies of the GBE1 gene—one from each parent—to develop the disease.
What are the chances my child will have GSD IV if I am a carrier?
If you are a carrier, your child is only at risk if your reproductive partner is also a carrier. If both of you carry a GBE1 mutation, there is a 25% chance with each pregnancy that your child will inherit the disease.
Do GSD IV carriers experience symptoms?
Carriers typically do not show any symptoms of the disease. Their single normal copy of the GBE1 gene produces enough working enzyme to keep their body functioning normally.
What should I do if I find out I am a carrier for GSD IV?
If you know you are a carrier, working with a genetic counselor is highly recommended. They can arrange a simple blood or saliva test for your partner to check their carrier status and help you navigate family planning options.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What type of carrier screening test is recommended for my partner, and how long does it take to get the results?
  2. 2.Can you refer us to a certified genetic counselor to discuss our specific family planning options?
  3. 3.Given my specific GBE1 mutation, are there particular variations or severities of GSD IV we should be aware of if my partner is also a carrier?
  4. 4.Are there any other genetic conditions my partner and I should be screened for at the same time?
  5. 5.Does our health insurance typically cover partner carrier screening and subsequent genetic counseling?

Questions For You

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Related questions

How is GSD IV Different from GSD I and Pompe Disease?Does a Liver Transplant Cure Glycogen Storage Disease IV?Does Low GBE1 Enzyme Activity Cause Severe GSD IV?How Does Glycogen Storage Disease Type IV Affect the Heart?What Are the New Treatments for GSD IV and APBD?Will My Child Outgrow Non-Progressive Hepatic GSD IV?How Does Uncooked Cornstarch Treat GSD Type IV?What Does PAS-Positive Diastase-Resistant Mean in GSD IV?Why is APBD Misdiagnosed as MS or ALS? Key Differences

References

References (10)
  1. 1

    Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3.

    Olsen SS, Ernst A, Christensen PS, et al.

    Case reports in genetics 2025; (2025()):5577571 doi:10.1155/crig/5577571.

    PMID: 40909175
  2. 2

    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.

    PMID: 38012812
  3. 3

    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.

    PMID: 33857563
  4. 4

    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.

    PMID: 32455116
  5. 5

    Glycogen branching enzyme controls cellular iron homeostasis via Iron Regulatory Protein 1 and mitoNEET.

    Huynh N, Ou Q, Cox P, et al.

    Nature communications 2019; (10(1)):5463 doi:10.1038/s41467-019-13237-8.

    PMID: 31784520
  6. 6

    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.

    PMID: 36176296
  7. 7

    Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.

    Bendroth-Asmussen L, Aksglaede L, Gernow AB, Lund AM

    International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2016; (35(1)):38-40 doi:10.1097/PGP.0000000000000214.

    PMID: 26166723
  8. 8

    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.

    PMID: 39840231
  9. 9

    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.

    PMID: 36796138
  10. 10

    Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

    Radhakrishnan P, Moirangthem A, Nayak SS, et al.

    Clinical dysmorphology 2019; (28(1)):17-21 doi:10.1097/MCD.0000000000000248.

    PMID: 30303820

This page explains the genetic inheritance of Glycogen Storage Disease Type IV for educational purposes. Always consult a certified genetic counselor or healthcare provider for personalized family planning and genetic testing advice.

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