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Galactokinase deficiency
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Galactokinase deficiency
Galactokinase deficiency, also known as Galactosemia type 2 or GALK deficiency, is an autosomal recessive metabolic disorder marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. The disorder is caused by ... Found op http://en.wikipedia.org/wiki/Galactokinase_deficiency
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galactokinase deficiency
An inborn error of metabolism due to congenital deficiency of galactokinase, resulting in increased blood galactose concentration (galactosaemia), cataracts, hepatomegaly, and mental deficiency; autosomal recessive inheritance. Galactose epimerase deficiency and galactose-1-phosphate uridyl transfer... Found op http://www.mondofacto.com/facts/dictionary?galactokinase+deficiency
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galactokinase deficiency
Type: Term Definitions: 1. an inborn error of metabolism due to congenital deficiency of galactokinase (GALK), resulting in increased blood galactose concentration (galactosemia), cataracts, hepatomegaly, and mental deficiency; autosomal recessive inheritance, caused by mutation in the GALK gene on ... Found op http://www.medilexicon.com/medicaldictionary.php?t=23196
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