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Newborn Screening ACT Sheet

[Increased Total Galactose with normal GALT]
Primary or Secondary Hypergalactosemia

Differential Diagnosis: Galactokinase (GALK) deficiency; UDP-galactose-4 epimerase deficiency; undefined increase.

Condition Description: Galactose comes from the lactose of breast milk or formula. Galactokinase deficiency is caused by a defect in conversion of galactose to galactose-1-phosphate. Epimerase deficiency limits the production of UDP-galactose, a co-substrate of GALT.

YOU SHOULD TAKE THE FOLLOWING ACTIONS:

  • Contact family to inform them of the newborn screening result.
  • See and evaluate the infant. Check for reducing substance in urine.
  • Consult/refer to a metabolic specialist to determine appropriate follow-up.
  • If clinical evaluation is normal and urinary reducing substance is negative, collect and send repeat dried blood specimen to the newborn screening program.
  • Report the findings to the newborn screening program.


Diagnostic Evaluation:

The diagnosis of galactokinase and epimerase deficiencies is established by quantitation of the respective enzyme activity in erythrocytes.

Clinical Considerations:

The neonate is usually normal. If GALK deficiency is untreated, cataracts develop. Treatment is withdrawal of milk. Epimerase deficiency is usually benign.

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