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Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation

  • Aynur Küçükçongar Yavaş ORCID logo EMAIL logo , Ayşenur Engin Erdal ORCID logo , Berrak Bilginer Gürbüz ORCID logo , Aysel Ünlüsoy Aksu ORCID logo and Çiğdem Seher Kasapkara ORCID logo
Published/Copyright: October 5, 2023
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 36 Issue 11

Abstract

Objectives

Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, different from GSD type 1a. Treatment with granulocyte-colony stimulating factor (G-CSF) is often required in the management of neutropenia and inflammatory bowel disease. Recently, an alternative treatment option to G-CSF has been preferred, like empagliflozin. To report on the demographics, genotype, clinical presentation, management, and complications of pediatric patients with glycogen storage disease type 1b (GSD 1b).

Methods

A retrospective analysis of the clinical course of eight patients with GSD type 1b whose diagnosis was confirmed by molecular testing.

Results

The mean age at referral was four months. The diagnosis of GSD 1b was based on clinical and laboratory findings and supported by genetic studies. One patient presented with an atypical clinical finding in the form of hydrocephalus at the time of first admission. The first symptom was abscess formation on the scalp due to neutropenia in another patient. Other patients had hypoglycemia at the time of admission. All patients presented suffered from neutropenia, which was managed with G-CSF, except one. Hospitalizations for infections were frequent. One patient developed chronic diarrhea and severe infections, which have been brought under control with empagliflozin.

Conclusions

Neutropenia is an essential finding in GSD 1b and responsible for complications. The coexistence of hypoglycemia and neutropenia should bring to mind GSD 1b. Empagliflozin can be a treatment option for neutropenia, which is resistant to G-CSF treatment.

Keywords: glycogen storage disease type 1b; hepatomegaly; neutropenia; empagliflozin
Corresponding Author: Associate professor MD, Aynur Küçükçongar Yavaş, Department of Pediatric Metabolic Diseases, Children’s Hospital, Ankara Bilkent City Hospital, Çankaya, Ankara, Türkiye, E-mail:

Acknowledgments

We appreciate the cooperation of the families of our patients.

  1. Research ethics: Ethical approval was obtained from the Local Ethics Committee of Ankara City Hospital for Non-Interventional Clinical Studies.

  2. Informed consent: Not applicable.

  3. Author contributions: Aynur Kücükcongar Yavaş and Ayşenur Engin Erdal contributed to the study’s planning and writing. Berrak Bilginer Gürbüz, Aysel Ünlüsoy Aksu, and Çiğdem Seher Kasapkara participated to the patients’ follow-up and the study’s design.

  4. Competing interests: All other authors state no conflict of interest.

  5. Research funding: None declared.

  6. Data availability: The raw data can be obtained on request from the corresponding author.

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Received: 2023-07-17
Accepted: 2023-09-18
Published Online: 2023-10-05
Published in Print: 2023-11-27

© 2023 Walter de Gruyter GmbH, Berlin/Boston

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  6. Extremely and very preterm children who were born appropriate for gestational age show no differences in cortisol concentrations or diurnal rhythms compared to full-term children
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  8. Excess body weight and dyslipidemia at well-child visit
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https://doi.org/10.1515/jpem-2023-0336
Keywords for this article
glycogen storage disease type 1b; hepatomegaly; neutropenia; empagliflozin

Articles in the same Issue

  1. Frontmatter
  2. Review
  3. Clinical heterogeneity and therapeutic options for idiopathic infantile hypercalcemia caused by CYP24A1 pathogenic variant
  4. Original Articles
  5. Growth hormone use in pediatric inflammatory bowel disease
  6. Extremely and very preterm children who were born appropriate for gestational age show no differences in cortisol concentrations or diurnal rhythms compared to full-term children
  7. A prospective comparison study of subcutaneous and intramuscular testosterone injections in transgender male adolescents
  8. Excess body weight and dyslipidemia at well-child visit
  9. Body mass index evolution and ovarian function in adolescent girls who received GnRH agonist treatment for central precocious puberty or early and fast puberty
  10. Assessment of pubertal onset and disorders of puberty in Indian children and youth with type-1 diabetes
  11. A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity
  12. Expected vs. perceived effects of gender-affirming hormone therapy among transmasculine adolescents
  13. Developmental scores in offspring of women with subclinical hypothyroidism in pregnancy are affected by gender and thyrotropin cutoff
  14. Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation
  15. IGAm: A novel index predicting long-term survival in patients with early-diagnosed inherited metabolic disorders
  16. Case Report
  17. Persistent hypercalcemia mimicking hypophosphatasia after discontinuation of a ketogenic diet: a case report
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