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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Galactose epimerase deficiency: lessons from the GalNet registry.

Britt Derks^1,2,3,4, 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.

Keywords:

Galactose epimerase deficiency Galactose-restricted diet Galactosemia type III Galactosemias Network

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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.