Galactosemia

Alternative names:

galactose-1-phosphate uridyl transferase deficiency

Symptoms:

• jaundice
• vomiting
• poor feeding
• poor weight gain
• lethargy
• irritability
• convulsions
• pupil, white spots

Signs and 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 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 enzamatic study on the urine can prove the substance to be galactose.
• measurement of enzyme activity in erythrocytes (red blood cells)

Updated Date: 02/09/00

Updated By:J. Gordon Lambert, MD, Associate Medical Director, Utah Health Informatics and adam.com editorial