All aspects of galactosemia: a single center experience
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Abdurrahman Akgun
and
Yasar Dogan
Abstract
Objectives
Classic galactosemia is a galactose metabolism disorder due to galactose-1-phosphate uridyltransferase deficiency. In this study we report the clinical features of a cohort of children with classic galactosemia.
Methods
A retrospective evaluation was made of the files of 42 cases followed up for a diagnosis of classic galactosemia between January 2000 and December 2021. The data were collected of clinical, laboratory and genetic characteristics.
Results
The cases comprised of 25 (59.5%) girls and 17 (40.5%) boys with a median age of 15 days (range, 1 day to 9 years) at diagnosis. In addition, thirty-six cases (92.3%) could be diagnosed before they were 4 months old by hospitalization with various clinical findings, primarily liver dysfunction. The most common complaints on presentation were jaundice (78.4%) and vomiting (27%) and the most frequently seen genetic pathogenic variant was c.563A>G (p.Gln188Arg) (92.4%).
Conclusions
It can be emphasized that there is a need for a neonatal screening program for classic galactosemia to be able to increase the possibility of early diagnosis and to be able to start treatment before the development of a severe clinical picture.
Acknowledgments
We would like to thank the management and staff of Firat University Hospital for their contributions.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Since the article does not contain personal information, informed consent was not obtained from the patients included in this study.
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Ethical approval: This study was approved by the Local Ethics Committee of the Firat University School of Medicine (protocol no: 6,276, date: 21 Jan 2022).
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Correspondence: AA is the guarantor of the article.
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Supplementary Material
The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2022-0308).
© 2022 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Editorial
- Disorders of sex development – biologic, genetic, cultural, societal, and psychologic diversity of the human nature
- Review
- Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement
- Original Articles
- Penile diameter during puberty in boys: a retrospective analysis of longitudinally obtained data
- Evaluation of bladder dysfunction in children and adolescents with type 1 diabetes mellitus by uroflowmetry
- All aspects of galactosemia: a single center experience
- The evolution of pituitary cysts in growth hormone-treated children
- Phototherapy-induced hypocalcemia and hypoparathyroidism in icteric term newborns
- Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience
- Does cystatin C have an immunomodulatory role in Hashimoto’s thyroiditis?
- Molecular genetic etiology by whole exome sequence analysis in cases with familial type 1 diabetes mellitus without HLA haplotype predisposition or incomplete predisposition
- Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review
- Case Reports
- Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation
- The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype
- Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report
- Human chorionic gonadotrophin secreting adrenocortical neoplasm presenting with peripheral precocious puberty in an infant
- Atypical familial diabetes associated with a novel NEUROD1 nonsense variant
