Startseite Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance
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Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance

  • Zahra Beyzaei , Fatih Ezgu , Mohammad Hadi Imanieh , Mahmoud Haghighat , Seyed Mohsen Dehghani , Naser Honar und Bita Geramizadeh EMAIL logo
Veröffentlicht/Copyright: 23. Januar 2023
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 36 Heft 3

Abstract

Objectives

Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far.

Case presentation

Herein we report a 2 year old girl presented with failure to thrive, hepatomegaly, and liver dysfunction. The primary impression has been hepatic glycogen storage disease type 1 or 6. This diagnosis was not confirmed by laboratory data and liver biopsy. Therefore, targeted-gene sequencing (TGS) covering 450 genes involved in inborn errors in metabolic diseases was performed. The results of TGS showed a rare novel homozygous pathogenic variant c.944del (p.Gly315ValfsTer15) in the ALDOB gene.

Conclusions

This report introduces a novel variant that expands the mutational spectrum of the ALDOB gene in patients with HFI.

Keywords: hereditary fructose intolerance; targeted gene sequencing; variant ALDOB
Corresponding author: Bita Geramizadeh, MD, Professor of Pathology, Department of Pathology, Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Khalili St., Research Tower, Seventh Floor, Shiraz, Iran, Phone: 98 71 36472915, E-mail:

  1. Research funding: Not declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

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

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: The local Institutional Review Board deemed the study exempt from review.

References

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Received: 2022-11-05
Accepted: 2022-12-15
Published Online: 2023-01-23
Published in Print: 2023-03-28

© 2022 Walter de Gruyter GmbH, Berlin/Boston

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  2. Editorial
  3. Thyroid – what is a healthy thyroid function test?
  4. Review
  5. Thyroid storm in pediatrics: a systematic review
  6. Opinion Paper
  7. DSD/intersex: historical context and current perspectives
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  15. Evaluation of serum telomerase activity in normal-weight young girls with polycystic ovary syndrome and its relation to metabolic parameters
  16. Early onset of puberty during COVID-19 pandemic lockdown: experience from two Pediatric Endocrinology Italian Centers
  17. Using change in predicted adult height during GnRH agonist treatment for individualized treatment decisions in girls with central precocious puberty
  18. Short Communications
  19. Long-term experience with the use of a single histrelin implant beyond one year in patients with central precocious puberty
  20. Relationships among biochemical measures in children with diabetic ketoacidosis
  21. Case Reports
  22. Hyperthyroidism in McCune–Albright Syndrome – a case report
  23. Sexual precocity in the setting of parental use of a compounded testosterone cream: case report and review of the literature
  24. Intracardiac thrombosis following intravenous zoledronate treatment in a child with steroid-induced osteoporosis
  25. Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance
https://doi.org/10.1515/jpem-2022-0566
Schlagwörter für diesen Artikel
hereditary fructose intolerance; targeted gene sequencing; variant ALDOB

Artikel in diesem Heft

  1. Frontmatter
  2. Editorial
  3. Thyroid – what is a healthy thyroid function test?
  4. Review
  5. Thyroid storm in pediatrics: a systematic review
  6. Opinion Paper
  7. DSD/intersex: historical context and current perspectives
  8. Original Articles
  9. Predictive value of 6 h postoperative parathyroid hormone level on permanent hypoparathyroidism in pediatric total thyroidectomy: a pilot study
  10. Evaluation of a nurse-led counselling intervention on selected outcome variables for parents of children with congenital adrenal hyperplasia
  11. The relationship between estrogen and subsequent growth restriction among adolescents with heavy menstrual bleeding at menarche
  12. An open-label extension of a phase 2 dose-finding study of once-weekly somatrogon vs. once-daily Genotropin in children with short stature due to growth hormone deficiency: results following 5 years of treatment
  13. Normal bone density but altered geometry in girls with Turner syndrome
  14. Newborn screening for inborn errors of metabolism in a northern Chinese population
  15. Evaluation of serum telomerase activity in normal-weight young girls with polycystic ovary syndrome and its relation to metabolic parameters
  16. Early onset of puberty during COVID-19 pandemic lockdown: experience from two Pediatric Endocrinology Italian Centers
  17. Using change in predicted adult height during GnRH agonist treatment for individualized treatment decisions in girls with central precocious puberty
  18. Short Communications
  19. Long-term experience with the use of a single histrelin implant beyond one year in patients with central precocious puberty
  20. Relationships among biochemical measures in children with diabetic ketoacidosis
  21. Case Reports
  22. Hyperthyroidism in McCune–Albright Syndrome – a case report
  23. Sexual precocity in the setting of parental use of a compounded testosterone cream: case report and review of the literature
  24. Intracardiac thrombosis following intravenous zoledronate treatment in a child with steroid-induced osteoporosis
  25. Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance
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