What to know about galactosemia


Before you decide to have a child, you should check your family history for galactosemia. If there is, your child may be at risk of this condition.

What is galactosemia?

Galactosemia is a condition that prevents you from digesting galactose, a simple sugar found in dairy foods. Galactosemia means too much galactose in the blood that is not being used. It is a genetic disorder that is passed down in the family.

When you ingest dairy products, lactose breaks down into galactose and glucose. People with galactosemia cannot tolerate any form of milk (human or animal). They must be careful about eating other foods containing galactose. Your body might have too much galactose build up in the blood and can lead to serious health problems if untreated.

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. If left untreated, as many as 75% of infants with galactosemia will not survive.

The different types of galactosemia include:

  • Classic and clinical variant galactosemia (Type 1 galactosemia): rare genetic metabolic disorders.
  • Duarte variant galactosemia: much more common than classic or clinical variant galactosemia in many populations.
  • Galactokinase deficiency (Type 2 galactosemia);
  • Epimerase deficiency (Type 3 galactosemia).

What causes galactosemia?

This condition is inherited from the parents. Children with galactosemia get the gene mutation from their parents, but the parents may not have the condition. It is suggested that each parent carry one copy of the gene that causes galactosemia and the condition is inherited in an autosomal recessive pattern.

Who is at risk for galactosemia?

The genetic of the parents will decide if the baby has galactosemia or not. If both of the parents have the gene, there is a 25% chance that the child will be born with the disease and a 50% chance that the child will be a carrier for the gene defect.

What are the symptoms of galactosemia?

Galactosemia usually does not show any symptoms at birth. After a few days or after drinking milk, you might notice jaundice, diarrhea, and vomit soon develop and the baby fails to gain weight. More specifically:

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

Children with galactosemia are often given a galactosemia diet at birth, but there is still a risk of complication long-terms.

  • An enlarged liver;
  • Kidney failure;
  • Cataracts in the eyes;
  • Brain damage;
  • Difficulty with speech and language;
  • Fine and gross motor skill delays;
  • Learning disabilities;
  • Ovarian failure may occur in girls.

What are the complications of galactosemia?

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).

How is galactosemia diagnosed?

Diagnosis for galactosemia is made usually within the first week of life by blood test as part of a standard newborn screening.

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.

Test results may show:

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

When the diagnosis galactosemia is made, genetic counseling is recommended for other members of the family.

How is galactosemia treated?

Till today, there are no drug or medication that could treat galactosemia. Treatment requires a strict diet restriction of lactose/galactose. 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.

Parents of an infant diagnosed with galactosemia need to use a formula that does not 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.

Even after switching to non-galactose formula, your child may still have sepsis if they have ingested galactose food before. The antibiotic is usually used to prevent sepsis in children.

A person with this condition can never able to digest food with galactose. However, with care and continuing medical advances, most children with galactosemia can now live normal lives.

Hello Health Group does not provide medical advice, diagnosis or treatment.

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