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Galactokinase deficiency: lessons from the GalNet registry.
M Estela Rubio-Gozalbo1, Britt Derks2, Anibh Martin Das3
1Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands. estela.rubio@mumc.nl.
Summary
Galactokinase (GALK1) deficiency can cause more than cataracts, including bleeding issues and encephalopathy. Early newborn screening aids in diagnosing this rare galactose metabolism disorder.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Galactokinase (GALK1) deficiency is a rare genetic disorder of galactose metabolism.
- The full spectrum of clinical manifestations beyond cataracts remains unclear.
Purpose of the Study:
- To characterize the phenotype of GALK1 deficiency.
- To analyze clinical data from GALK1 deficient patients.
Main Methods:
- An observational study collected data from 53 GALK1 deficient patients across 17 centers in 11 countries.
- Data were gathered between December 2014 and April 2020.
Main Results:
- Cataracts were observed in 19 patients (neonatal/childhood).
- Increased incidence of bleeding diathesis and encephalopathy noted compared to general population.
- Elevated transaminases (25.5%) and cognitive delay (5 patients) were reported; elevated urinary galactitol confirmed diagnosis in all.
Conclusions:
- GALK1 deficiency phenotype may include cataracts, elevated transaminases, bleeding diathesis, and encephalopathy.
- Further research is needed to delineate complications beyond the neonatal period.
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