Preliminary CommunicationsDEFICIENCY OF ERYTHROCYTE GALACTOKINASE IN A PATIENT WITH GALACTOSE DIABETES
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Cited by (71)
Galactokinase deficiency: lessons from the GalNet registry
2021, Genetics in MedicineCitation Excerpt :The first description dates back to 1933 when Fanconi2 described a patient with cataract associated with milk ingestion, a condition he termed galactose diabetes. It was in 1965 that Gitzelmann3 discovered that this patient suffered from GALK1 deficiency.8 Two galactokinase-like genes can be distinguished.
Disorders of Carbohydrate Metabolism
2020, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic DisordersDynamic origins of substrate promiscuity in bacterial galactokinases
2019, Carbohydrate ResearchCitation Excerpt :This disease has a very wide range of manifestations from altered blood chemistry with little or no pathological consequences to death in childhood [15,16]. Mutations in the gene encoding human galactokinase (GALK1) are associated with type II galactosemia (OMIM #230200) which is a milder form of the disease [17–20]. Knock-down of expression of the galactokinase gene inhibits the growth of liver cancer cells demonstrating that the enzyme may have potential as an anticancer drug target [21].
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data
2018, Molecular Genetics and MetabolismCitation Excerpt :The cataract seems irreversible when the diet is introduced beyond four to eight weeks of life [4]. While Gitzelman was the first to describe the disease in 1965, Thalhammer et al. first reported the detection of a patient with GALK deficiency through a newborn screening program [2,8]. In newborn screening blood galactose has been measured since 1964 and screening was mostly aimed at detection of patients with classical galactosemia (MIM ID 230400) caused by galactose-1-phosphate-uridyltransferase (GALT; EC 2.7.7.12) deficiency [9].
Disorders of Carbohydrate Metabolism
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsInnovative therapy for Classic Galactosemia - Tale of two HTS
2012, Molecular Genetics and MetabolismCitation Excerpt :But between gal-1P and galactitol, which is a more important pathogenic factor for Classic Galactosemia? As GALK-deficient patients who accumulate galactitol but not gal-1P develop mostly only cataracts [50,51], rather than the long-term central nervous system (CNS) and ovarian complications seen in Classic Galactosemia [52,53], it has been proposed that the accumulation of gal-1P, but not galactitol, is more crucial for the development of these complications. However, this does not necessarily preclude any potential synergistic effects of galactitol in the presence of elevated gal-1P.