Observational studyGenetics in medicine : official journal of the American College of Medical Genetics2021
Galactokinase deficiency: lessons from the GalNet registry.
Observational study in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- Galactose mutarotase deficiency as the galactosemia type IV.Journal of human genetics · 2025Review
- A transcriptomic atlas of the human brain reveals genetically determined aspects of neuropsychiatric health.American journal of human genetics · 2024Article
- Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia.JIMD reports · 2024Article
- The Importance of Neonatal Screening for Galactosemia.Nutrients · 2022Review
- Review
- Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.Biomolecules · 2022Review
- Two siblings with galactose mutarotase deficiency: Clinical differences.JIMD reports · 2022Article
- The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan.International journal of neonatal screening · 2021Review
- Pathophysiology and management of classic galactosemic primary ovarian insufficiency.Reproduction & fertility · 2021Review
- Galactokinase deficiency: a treatable cause of bilateral cataracts.BMJ case reports · 2021Article
- [JIMD reports · 2021Article
- Current and Future Treatments for Classic Galactosemia.Journal of personalized medicine · 2021Review
Corrections and comments
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Authors and funding
24 authors at 19 institutions in 11 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeGalactokinase (GALK1) deficiency is a rare hereditary galactose metabolism disorder. Beyond cataract, the phenotypic spectrum is questionable. Data from affected patients included in the Galactosemias Network registry were collected to better characterize the phenotype.
methodsObservational study collecting medical data of 53 not previously reported GALK1 deficient patients from 17 centers in 11 countries from December 2014 to April 2020.
resultsNeonatal or childhood cataract was reported in 15 and 4 patients respectively. The occurrence of neonatal hypoglycemia and infection were comparable with the general population, whereas bleeding diathesis (8.1% versus 2.17-5.9%) and encephalopathy (3.9% versus 0.3%) were reported more often. Elevated transaminases were seen in 25.5%. Cognitive delay was reported in 5 patients. Urinary galactitol was elevated in all patients at diagnosis; five showed unexpected Gal-1-P increase. Most patients showed enzyme activities ≤1%. Eleven different genotypes were described, including six unpublished variants. The majority was homozygous for NM_000154.1:c.82C>A (p.Pro28Thr). Thirty-five patients were diagnosed following newborn screening, which was clearly beneficial.
conclusionThe 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.
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