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An Important Parameters of Galactokinase Deficiency or Galactosemia Type II Include Etiology, Epidemiology, Pathophysiology, Diagnosis, Differential Diagnosis, Treatment, Prognosis and Complications

Muralinath E., Guruprasad M., Madhavi Latha C., Sheethal U., Rajitha V., Manohar U., Srinadh G., Rohitha K.

Abstract


An uncommon inborn mistake of galactose metabolism is galactokinase deficiency, often known as galactosemia type II. Compared to other forms of galactosemia, type II is more uncommon and sneaky. It causes nuclear cataracts without causing signs of intolerance. Early identification and dietary restrictions play an important role regarding stoppage of long term complications. This article explains the pathophysiology, evaluation, and management of galactokinase deficiency and highlights the role of an inter-professional team regarding evaluation and treatment of patients along with this condition.


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References


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