Galactokinase Deficiency Workup

Updated: Apr 17, 2018
  • Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD  more...
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Workup

Laboratory Studies

Clinitest

Most hospitals use Clinitest in the diagnosis of galactokinase deficiency, the simplest laboratory test available to detect reducing sugars (eg, glucose, lactose, or fructose, which reduce copper salts in Clinitest tablets) in the urine.

Always correlate a positive Clinitest result with a test specific for glucose, such as Clinistix. Alternatively, galactose may be identified directly with paper or gas chromatography. If galactose is found, galactose-1-phosphate concentration should also be measured to conclusively exclude transferase-deficient galactosemia.

Definitive biochemical diagnosis is based on assessment of red cell galactokinase activity.

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Imaging Studies

No imaging studies are required.

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Other Tests

Once a definitive diagnosis is established, no further testing is needed.

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Procedures

No diagnostic procedures are required.

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Histologic Findings

No histologic findings are associated with galactokinase deficiency. Cataracts bear no distinguishing features that identify their etiology.

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