Galactosemia

Galactosemia

Galactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.

Galactosemia is an inherited disorder, passed down through families. It occurs in approximately 1 out of every 60,000 births among Caucasians. The rate is different for other groups. There are three forms of the disease:

  • Galactose-1 phosphate uridyl transferase deficiency (classic galactosemia, the most common and most severe form)
  • Deficiency of galactose kinase
  • Deficiency of galactose-6-phosphate epimerase

People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk. The other sugar is glucose.

Persons with galactosemia cannot tolerate any form of milk (human or animal). They must be careful about eating other foods containing galactose.

If an infant with galactosemia is given milk, substances made from galactose build up in the infant’s system. These substances damage the liver, brain, kidneys, and eyes.

Infants with galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E. coli.

  • Convulsions
  • Irritability
  • Lethargy
  • Poor feeding (baby refuses to eat formula containing milk)
  • Poor weight gain
  • Yellow skin and whites of the eyes (jaundice)
  • Vomiting

Infants can be fed with:

  • Soy formula
  • Meat-based formula or Nutramigen (a protein hydrolysate formula)
  • Another lactose-free formula

Calcium supplements are recommended.

People with this condition must avoid all milk, milk-containing products (including dry milk), and other foods that contain galactose for life. It is essential to read product labels and be an informed consumer.

Summary of PubMed Overview.

RESOURCES

K. C. GROSS 1 and P. B. ACOSTA, “Fruits and Vegetables are a Source of Galactose: Implications in Planning the Diets of Patients with Galactosaemia” J. Inher. Metab. Dis. 14 (1991) 253-258 (Third page of this article has an excellent list of fruits and vegetables and their galactose contents)