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Galactose epimerase deficiency: lessons from the GalNet registry
Britt Derks1,2,3,4, Didem Demirbas5, Rodrigo R Arantes6
1Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6229 HX, Maastricht, The Netherlands.
Orphanet Journal of Rare Diseases
|September 2, 2022
Summary
Galactose epimerase (GALE) deficiency, a rare metabolic disorder, presents a wide spectrum of symptoms. This study highlights the need for comprehensive diagnostic and follow-up strategies for affected individuals.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Galactose epimerase (GALE) deficiency is a rare hereditary disorder impacting galactose metabolism.
- Limited cases are documented, necessitating further research into its characteristics.
Purpose of the Study:
- To present data from international GALE deficiency patients.
- To expand knowledge on GALE deficiency.
- To review diagnostic strategies, treatment, and follow-up for this poorly understood condition.
Main Methods:
- An observational study collected data from 22 unreported patients across 14 centers in 9 countries (December 2014 - April 2022).
- Patients were categorized as generalized or non-generalized based on genotype, enzyme activity, and clinical presentation.
- Genotyping and enzyme activity assessments were key diagnostic tools.
Main Results:
- Six patients were classified as generalized GALE deficiency, with symptoms including neonatal illness, developmental delays, and hearing issues.
- Sixteen patients had non-generalized GALE deficiency, with no clearly associated symptoms identified.
- Ten novel genetic variants were identified in the study population, expanding the known mutational landscape.
Conclusions:
- GALE deficiency exhibits a broad phenotypic spectrum, from asymptomatic to severe.
- Generalized GALE deficiency aligns with previously reported cases, with dietary interventions being the primary treatment.
- Diagnosing and managing non-generalized GALE deficiency is challenging, requiring comprehensive testing including genetic studies and enzymatic analyses for effective counseling and follow-up.
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