Published Date: November 18, 2022

Full Text Article

All aspects of galactosemia: a single center experience

Authors: Abdurrahman Akgun, Yasar Dogan

J Pediatr Endocrinol Metab. 2022 Nov 21;36(1):29-35. doi: 10.1515/jpem-2022-0308. Print 2023 Jan 27.


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.

PMID: 36399011DOI: 10.1515/jpem-2022-0308