From Wikipedia, the free encyclopedia
Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.[1]
[edit] Causes
Galactokinase deficiency has autosomal recessive pattern of
inheritance.
This is an autosomal recessive disorder,[2] and unlike galactose-1-phosphate uridyltransferase deficiency, the symptoms are relatively mild. The only known symptom in affected children is cataracts, which can present as a failure to develop a social smile, and failure to visually track moving objects.
[edit] See also
[edit] References
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Inborn error of carbohydrate metabolism (including glycogen storage diseases) (E73-74, 271) |
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| Disaccharide catabolism |
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| Monosaccharide catabolism |
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| Monosaccharide transport |
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| Glycolysis |
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| Pyruvate catabolism |
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| Gluconeogenesis |
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| Glycogenesis |
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| Glycogenolysis |
GSD type II, Pompe's, glucosidase - GSD type III, Cori's, debranching - GSD type V, McArdle, glycogen phosphorylase/ GSD type VI, Hers', glycogen phosphorylase - GSD type I, von Gierke, glucose 6-phosphatas
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| Pentose phosphate pathway |
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| Other |
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