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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

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2191-0251
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Volume 32, Issue 7

Issues

Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey

Pelin Teke Kisa
  • Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
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/ Melis Kose
  • Division of Pediatric Metabolism and Nutrition, Dr. Behcet Uz Children’s Training and Research Hospital, Izmir, Turkey
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/ Ozlem Unal
  • Division of Pediatric Metabolism and Nutrition, Ankara Children’s Training and Research Hospital, Ankara, Turkey
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/ Esra Er
  • Division of Pediatric Metabolism and Nutrition, Ege University Faculty of Medicine, Izmir, Turkey
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/ Burcu Ozturk Hismi
  • Division of Pediatric Metabolism and Nutrition, Tepecik Training and Research Hospital, Izmir, Turkey
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/ Fatma Selda Bulbul / Engin Kose
  • Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
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/ Mehmet Gunduz
  • Division of Pediatric Metabolism and Nutrition, Ankara Children’s Training and Research Hospital, Ankara, Turkey
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/ Ebru Canda
  • Division of Pediatric Metabolism and Nutrition, Ege University Faculty of Medicine, Izmir, Turkey
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/ Aynur Kucukcongar
  • Division of Pediatric Metabolism and Nutrition, Ankara Children’s Training and Research Hospital, Ankara, Turkey
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/ Nur Arslan
  • Corresponding author
  • Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
  • Email
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Published Online: 2019-06-11 | DOI: https://doi.org/10.1515/jpem-2018-0457

Abstract

Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can be prevented. In this study, we describe the clinical phenotypes, time of diagnosis and GALT genotypes of 76 galactosemia patients from Turkey, where the disease is not yet included in the newborn screening program. The median age at first symptom was 10 days (range 5–20), while the median age at diagnosis was 30 days (range 17–53). Nearly half of the patients (36 patients, 47.4%) were diagnosed later than age 1 month. Fifty-eight individuals were found to have 18 different pathogenic variants in their 116 mutant alleles. In our sample, Q188R variant has the highest frequency with 53%, the other half of the allele frequency of the patients showed 17 different genotypes. Despite presenting with typical clinical manifestations, classical galactosemia patients are diagnosed late in Turkey. Due to the geographical location of our country, different pathogenic GALT variants may be seen in Turkish patients. In the present study, a clear genotype-phenotype correlation could not be established in patients.

Keywords: Classical galactosemia; GALT variations; time of diagnosis

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About the article

Corresponding author: Nur Arslan, MD, PhD, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir Biomedicine and Genome Center (iBG-izmir), Izmir, Turkey, Phone: 0090 2324126107, Fax: 0090 2324126005


Received: 2018-10-18

Accepted: 2019-03-30

Published Online: 2019-06-11

Published in Print: 2019-07-26


Author contributions: Pelin Teke Kisa conceptualized and designed the study, carried out the analyses, drafted the initial manuscript and approved the final version as submitted. Melis Kose, Ozlem Unal, Esra Er, Burcu Ozturk Hismi, Fatma Selda Bulbul, Engin Kose, Mehmet Gunduz, Ebru Canda and Aynur Kucukcongar helped to conceptualize and design the study, collect the data, review and revise the manuscript, and approved the final version as submitted. Nur Arslan critically reviewed the manuscript and approved the final version as submitted.

Compliance with ethical standards: The study was planned and executed in accordance with the Declaration of Helsinki and was approved by the Institutional Review Board.

Conflict of interest: There are no conflicts of interest to declare.

Informed consent: Informed assent from the participants (whenever appropriate) and written informed consent from their caregivers were obtained.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 32, Issue 7, Pages 675–681, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2018-0457.

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