Startseite Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability
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Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability

  • Aslı İnci ORCID logo EMAIL logo , Gonca Kılıç Yıldırım , Filiz Başak Cengiz Ergin , Sinan Sarı , Ödül Eğritaş Gürkan , İlyas Okur , Gürsel Biberoğlu , Ayşegül Bükülmez , Fatih Süheyl Ezgü , Buket Dalgıç und Leyla Tümer
Veröffentlicht/Copyright: 17. Januar 2022
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 35 Heft 4

Abstract

Objectives

To reveal the different clinical presentations of liver glycogen storage disease type IX (GSD IX), which is a clinically and genetically heterogeneous type of glycogenosis.

Methods

The data from the electronic hospital records of 25 patients diagnosed with liver GSD IX was reviewed. Symptoms, clinical findings, and laboratory and molecular analysis were assessed.

Results

Of the patients, 10 had complaints of short stature in the initial presentation additionally other clinical findings. Elevated serum transaminases were found in 20 patients, and hepatomegaly was found in 22 patients. Interestingly, three patients were referred due to neurodevelopmental delay and hypotonia, while one was referred for only autism. One patient who presented with neurodevelopmental delay developed hepatomegaly and elevated transaminases during the disease later on. Three of the patients had low hemoglobin A1C and fructosamine values that were near the lowest reference range. Two patients had left ventricular hypertrophy. Three patients developed osteopenia during follow-up, and one patient had osteoporosis after puberty. The most common gene variant, PHKA2, was observed in 16 patients, 10 variants were novel and six variants were defined before. Six patients had variants in PHKG2, two variants were not defined before and four variants were defined before. PHKB variants were found in three patients. One patient had two novel splice site mutations in trans position. It was revealed that one novel homozygous variant and one defined homozygous variant were found in PHKB.

Conclusions

This study revealed that GSD IX may present with only hypotonia and neurodevelopmental delay without liver involvement in the early infantile period. It should be emphasized that although liver GSDIX is thought of as a benign disease, it might present with multisystemic involvement and patients should be screened with echocardiography, bone mineral densitometry, and psychometric evaluation.

Keywords: hypertrophic cardiomyopathy; hypotonia; liver glycogen storage disease type IX; osteopenia
Corresponding author: Aslı İnci, Department of Pediatric Nutrition and Metabolism, Gazi University Medical School, Beşevler 06500, Ankara, Turkey, Phone: +090 312 202 6005, Fax: +90 312 2150413, E-mail:

Acknowledgments

We thank many physicians and staff in the Department of Pediatric Metabolism and Nutrition and Pediatric Gastroenterology and Hepatology who provide ongoing multidisciplinary care. We thank individuals who participated in the study and their families.

  1. Research funding: None declared.

  2. Author contributions: AO, GKY, IO, SS, OEG, AB, BD: diagnosed patients as GSD-IX. AO, GKY, IO, FSE, LT; screening and evaluating the patients in terms of GSD IX, AI, GKY, IO, FSE, LT; following up the patients, GB: performing the biochemical analysis. AI, GKY, IO, FSE and LT contributing to the design of the study and interpreting the data. FBCE, FSE, AI; performing the genetic analysis, FBCE, FSE, AI ; interpreting the genetic analysis results, AI, GKY, IO, LT, FSE drafted the article and revised it for important intellectual content. All the authors saw the final version of the study and approved of the version to be submitted.

  3. Competing interests: Authors state no conflict of interest.

  4. Ethical statement: The study was approved by the Gazi University School of Medicine, Ethics Committee for Non-Interventional Clinical Studies, which did not require the participants to sign an informed consent form.

  5. Informed consent: Informed consent was obtained from all individuals included in this study for genetic analysis.

  6. Ethical approval: This retrospective study was approved by the Gazi University School of Medicine, Ethics Committee for Non-Interventional Clinical Studies, which did not require the participants to sign an informed consent form.

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Supplementary Material

The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2021-0278).

Received: 2021-04-16
Accepted: 2021-12-22
Published Online: 2022-01-17
Published in Print: 2022-04-26

© 2021 Walter de Gruyter GmbH, Berlin/Boston

Artikel in diesem Heft

  1. Frontmatter
  2. Review Article
  3. Nephrogenic diabetes insipidus: a comprehensive overview
  4. Original Articles
  5. Prevalence of type 2 diabetes mellitus, metabolic syndrome, and related morbidities in overweight and obese children
  6. Impact of sports participation on components of metabolic syndrome in adolescents: ABCD growth study
  7. Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability
  8. Evaluation of patients with phenylalanine metabolism disorder: a single center experience
  9. The association of grandparental co-residence and dietary knowledge with excess body weight among children aged 7–15 years in China
  10. Clinical characteristics of polyglandular autoimmune syndromes in pediatric age: an observational study
  11. Serum kisspeptin, leptin, neuropeptide Y, and neurokinin B levels in adolescents with polycystic ovary syndrome
  12. Ultrasonographic measurements of the testicular volume in Turkish boys aged 0–8 years and comparison with international references
  13. Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1
  14. Benefits of metformin add-on insulin therapy (MAIT) for HbA1c and lipid profile in adolescents with type 1 diabetes mellitus: preliminary report from a double-blinded, placebo-controlled, randomized clinical trial
  15. Evaluation of efficacy and safety of long-acting PEGylated recombinant human growth hormone (Jintrolong) for patients with growth hormone deficiency
  16. Evaluation of endocrinological involvement and metabolic status in patients with Gaucher disease Type 1 and Fabry disease under enzyme replacement therapy
  17. Letter to the Editor
  18. Correspondence on “Obesity after the Covid-19 pandemic”
  19. Case Reports
  20. An unusual presentation of primary adrenal insufficiency with new onset type 1 diabetes: case report and review of the literature
  21. Niemann–Pick type C disease with a novel intronic mutation: three Turkish cases from the same family
  22. Weight management in youth with rapid-onset obesity with hypothalamic dysregulation, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD-NET): literature search and case report
  23. Successful use of cinacalcet monotherapy in the management of siblings with homozygous calcium-sensing receptor mutation
https://doi.org/10.1515/jpem-2021-0278
Schlagwörter für diesen Artikel
hypertrophic cardiomyopathy; hypotonia; liver glycogen storage disease type IX; osteopenia

Artikel in diesem Heft

  1. Frontmatter
  2. Review Article
  3. Nephrogenic diabetes insipidus: a comprehensive overview
  4. Original Articles
  5. Prevalence of type 2 diabetes mellitus, metabolic syndrome, and related morbidities in overweight and obese children
  6. Impact of sports participation on components of metabolic syndrome in adolescents: ABCD growth study
  7. Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability
  8. Evaluation of patients with phenylalanine metabolism disorder: a single center experience
  9. The association of grandparental co-residence and dietary knowledge with excess body weight among children aged 7–15 years in China
  10. Clinical characteristics of polyglandular autoimmune syndromes in pediatric age: an observational study
  11. Serum kisspeptin, leptin, neuropeptide Y, and neurokinin B levels in adolescents with polycystic ovary syndrome
  12. Ultrasonographic measurements of the testicular volume in Turkish boys aged 0–8 years and comparison with international references
  13. Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1
  14. Benefits of metformin add-on insulin therapy (MAIT) for HbA1c and lipid profile in adolescents with type 1 diabetes mellitus: preliminary report from a double-blinded, placebo-controlled, randomized clinical trial
  15. Evaluation of efficacy and safety of long-acting PEGylated recombinant human growth hormone (Jintrolong) for patients with growth hormone deficiency
  16. Evaluation of endocrinological involvement and metabolic status in patients with Gaucher disease Type 1 and Fabry disease under enzyme replacement therapy
  17. Letter to the Editor
  18. Correspondence on “Obesity after the Covid-19 pandemic”
  19. Case Reports
  20. An unusual presentation of primary adrenal insufficiency with new onset type 1 diabetes: case report and review of the literature
  21. Niemann–Pick type C disease with a novel intronic mutation: three Turkish cases from the same family
  22. Weight management in youth with rapid-onset obesity with hypothalamic dysregulation, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD-NET): literature search and case report
  23. Successful use of cinacalcet monotherapy in the management of siblings with homozygous calcium-sensing receptor mutation
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