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Galactosemia

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

 

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

Causes

 

Galactosemia is an inherited disorder. This means it is passed down through families. If both parents carry a nonworking copy of the gene that can cause galactosemia, each of their children has a 25% (1 in 4) chance of being affected with it.

There are 3 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.

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.

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

 

Symptoms

 

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.

Symptoms of galactosemia are:

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

 

Exams and Tests

 

Tests to check for galactosemia include:

  • Blood culture for bacterial infection (E coli sepsis)
  • Enzyme activity in the red blood cells
  • Ketones in the urine
  • Prenatal diagnosis by directly measuring the enzyme galactose-1-phosphate uridyl transferase
  • "Reducing substances" in the infant's urine, and normal or low blood sugar while the infant is being fed breast milk or a formula containing lactose

Newborn screening tests in many states check for galactosemia.

Test results may show:

  • Amino acids in the urine or blood plasma
  • Enlarged liver
  • Fluid in the abdomen
  • Low blood sugar

 

Treatment

 

People with this condition must avoid all milk, products that contain milk (including dry milk), and other foods that contain galactose, for life. Read product labels to make sure you or your child with the condition are not eating foods that contain galactose.

Infants can be fed:

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

Calcium supplements are recommended.

 

Support Groups

 

Galactosemia Foundation -- www.galactosemia.org

 

Outlook (Prognosis)

 

People who are diagnosed early and strictly avoid milk products can live a relatively normal life. However, mild mental impairment may develop, even in people who avoid galactose.

 

Possible Complications

 

These complications can develop:

  • Cataracts
  • Cirrhosis of the liver
  • Delayed speech development
  • Irregular menstrual periods, reduced function of ovaries leading to ovarian failure
  • Mental disability
  • Severe infection with bacteria (E coli sepsis)
  • Tremors (shaking) and uncontrollable motor functions
  • Death (if there is galactose in the diet)

 

When to Contact a Medical Professional

 

Call your health care provider if:

  • Your infant has galactosemia symptoms
  • You have a family history of galactosemia and are considering having children

 

Prevention

 

It is helpful to know your family history. If you have a family history of galactosemia and want to have children, genetic counseling will help you make decisions about pregnancy and prenatal testing. Once the diagnosis of galactosemia is made, genetic counseling is recommended for other members of the family.

Many states screen all newborns for galactosemia. If the newborn test shows possible galactosemia, they should stop giving their infant milk products right away and ask their provider about having blood tests that can be done to confirm a diagnosis of galactosemia.

 

 

References

Berry GT, Walter JH. Disorders of galactose metabolism. In: Saudubray JM, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. New York, NY: Springer; 2012:chap 7.

Broomfield A, Brain C, Grunewald S. Galactosaemia: diagnosis, management and long-term outcome. Paediatrics and Child Health. 2015:25(3);113-118.

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      Review Date: 4/20/2015

      Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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