Galactosemia

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Galactosemia Diagnosis & Tests

• Hepatomegaly (enlarged liver)
• Hypoglycemia (low blood sugar)
• Aminoaciduria (amino acids are present in the urine)
• Cirrhosis
• Ascites (fluid collects in the abdomen)
• Mental retardation
• Cataract formation

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).