Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases
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Kleopatra H. Schulpis
Abstract
Background:
Deficiencies of galactokinase (GALK) and UDP-epimerase (GALE) are implicated with galactose metabolic disorders. The aim of the study was the identification of mutations in GALK and GALE genes and clinical evaluation of patients.
Methods:
Five patients with GALK and five with GALE deficiency were picked up via the Neonatal Screening Program. Additionally, two females, 4 years old, were referred with late diagnosed galactosemia, as rare cases. Mutational analysis was conducted via Sanger sequencing, while in silico analysis tools were utilized for the novel mutation. Psychomotor and speech development tests were performed, as well.
Results:
The mutation p.Pro28Thr was identified in both alleles in GALK-deficient patients of Roma (gypsy) origin, whereas the novel p.Asn39Ser was detected in two non-Roma patients. In GALE-deficient patients benign and/or likely benign mutations were found. Psychomotor and speech delay were determined in the Roma GALK patients. In each of the late diagnosed females, four mutations were identified in all galactosemia-related genes.
Conclusions:
The mutational spectrums of GALE- and GALK-deficient patients in Greece are presented for the first time along with a clinical evaluation. Mutational analysis in all galactosemia-related genes of symptomatic patients is highly recommended for future cases.
Acknowledgments
The authors are very grateful to the technicians M. Kalogerakou, M. Gounaropoulou and D. Vasilakos for their technical assistance. Also, the authors are highly indebted to Marianthi Vlachou, Biochemist, for her support, in preparing this manuscript.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Supplemental Material:
The online version of this article (DOI: https://doi.org/10.1515/jpem-2017-0065) offers supplementary material, available to authorized users.
©2017 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Original Articles
- High prevalence of organ specific autoantibodies in Indian type 1 diabetic patients
- Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
- Excessive weight gain in exclusively breast-fed infants
- Comparison of Tanner staging of HIV-infected and uninfected girls at the University of Nigeria Teaching Hospital, Ituku/Ozalla, Enugu, Nigeria
- Joint association of screen time and physical activity with anthropometric measures in Iranian children and adolescents: the weight disorders survey of the CASPIAN-IV study
- Assessment of insulin like growth factor-1 and IGF binding protein-3 in healthy Indian girls from Delhi and their correlation with age, pubertal status, obesity and thyroid hormonal status
- Impact of discontinuation of growth hormone treatment on lipids and weight status in adolescents
- Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height
- A combined approach to generate laboratory reference intervals using unbalanced longitudinal data
- Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases
- Case Reports
- Pediatric toxic polycystic thyroid
- In utero virilization secondary to a maternal Krukenberg tumor: case report and review of literature
- Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction
- Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years
