Galactokinase deficiency: lessons from the GalNet registry.

M Estela Rubio-GozalboBritt DerksAnibh Martin DasUta MeyerDorothea MöslingerM Luz CouceAurélie EmpainCan FiciciogluNatalia Juliá PalaciosMariela M De Los Santos De PelegrinIsabel A RiveraSabine Scholl-BürgiAnnet M BoschDavid CassimanDidem DemirbasMatthias GautschiIna KnerrPhilippe LabruneAnastasia SkoumaPatrick VerlooSaskia B WortmannEileen P TreacyDavid J TimsonGerard T Berry

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

The phenotype of GALK1 deficiency may include neonatal elevation of transaminases, bleeding diathesis, and encephalopathy in addition to cataract. Potential complications beyond the neonatal period are not systematically surveyed and a better delineation is needed.

Keyphrases

replacement therapy
early onset
atrial fibrillation
risk factors
human health
risk assessment
cataract surgery