Hereditary fructose intolerance

Alternative names:

disaccharide malabsorption; fructose intolerance; fructosemia

Symptoms:

• onset of symptoms after starting the infant on food or formula
• irritability
• increased or prolonged neonatal jaundice
• vomiting
• convulsions

Note: The early symptoms of fructose intolerance may resemble those of galactosemia: irritability, jaundice, vomiting, convulsions and an enlarged liver and spleen. Later problems relate more to liver disease.

Signs and tests:

Physical examination may also show:

• jaundice (yellow skin and eyes)
• hepatosplenomegaly (enlarged liver and spleen)
• hypoglycemia (low blood sugar)

Tests that confirm the diagnosis include:

• urine for reducing substances
• liver biopsy
• enzyme studies