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Ency. home > Disease > G > Galactosemia

Galactosemia   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency

Symptoms

Signs and Tests

Tests include:

  • Prenatal diagnosis by direct measurement of the enzyme galactose-1-phosphate uridyl transferase.
  • Reducing substances in infants urine with simultaneous normal or low blood sugar while the infant is being fed breast milk or a formula containing lactose. One simple test on the urine with Clinitest indicates the presence of a reducing substance, and a specific enzymatic study on the urine can prove the substance to be galactose.
  • Presence of chemical, called ketones, in urine.
  • Measurement of enzyme activity in erythrocytes (red blood cells).
  • Blood culture for bacteria infection (E. coli sepsis).

Ency. home > Disease > G > Galactosemia

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