Molecular basis and clinical presentation of classic galactosemia in a Croatian population
-
Danijela Petković Ramadža
,
Vladimir Sarnavka
Abstract
Background:
Classic galactosemia is an autosomal recessive disorder of galactose metabolism caused by severely decreased activity of galactose-1-phosphate uridylyltransferase (GALT) due to pathogenic mutations in the GALT gene. To date more than 330 mutations have been described, with p.Q188R and p.K285N being the most common in Caucasian populations. Although acute manifestations can be fully avoided by a galactose-restricted diet, chronic complications, such as neurological ones, cannot be prevented in a significant number of patients despite compliance with the dietary treatment.
Methods:
A cohort of 16 galactosemic Croatian patients, including one pair of siblings, was studied. Molecular characterization was performed by direct sequence analysis of the GALT gene.
Results:
Sixteen patients were analyzed and only four different mutations were detected. As expected, p.Q188R and p.K285N were common, accounting for 40% and 37% of unrelated alleles, respectively. The third mutation accounting for 20% of mutant alleles was p.R123X causing a premature stop codon, is thus considered to be severe, which is in accordance with the phenotype presented by the homozygous patient described here. The fourth mutation p.E271D was found in a single allele. More than half of our patients manifested some chronic neurological complications.
Conclusions:
This is the first report on mutational and phenotypic spectra of classic galactosemia in Croatia that expands the knowledge on the mutational map of the GALT gene across Europe and reveals the genetic homogeneity of the Croatian population.
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: Authors declare no conflict of interest.
References
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Articles in the same Issue
- Frontmatter
- Editorial
- Growth and growth hormone: recent papers on efficacy and adverse effects of growth hormone and World Health Organisation growth standards
- Review
- Allergic and non-allergic skin reactions associated with growth hormone therapy: elucidation of causative agents
- Original Articles
- Adherence to growth hormone therapy in children and its potential barriers
- Short-term adverse effects of testosterone used for priming in prepubertal boys before growth hormone stimulation test
- Growth response to growth hormone treatment in patients with SHOX deficiency can be predicted by the Cologne prediction model
- WHO 2006 Child Growth Standards overestimate short stature and underestimate overweight in Japanese children
- Identifying depressive symptoms among diabetes type and the impact on hemoglobin A1c
- Insulin resistance and lung function in obese asthmatic pre-pubertal children
- Obesity is associated with vitamin D deficiency in Danish children and adolescents
- Daily sitting time associated with the risk of metabolic syndrome in Korean adolescents
- Molecular basis and clinical presentation of classic galactosemia in a Croatian population
- Clinical outcome in a series of pediatric patients with congenital generalized lipodystrophies treated with dietary therapy
- Letter to the Editor
- Spondyloepiphyseal or spondylometaphyseal dysplasia in ancient Greek art
- Case Reports
- Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation
- Veganism as a cause of iodine deficient hypothyroidism
- A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty
- Addison’s disease presenting with perimyocarditis
