How do you know if your baby has galactosemia?

A baby may develop signs of galactosemia within the first few days of life if the consume lactose found in breast milk or baby formula. These initial signs include: Refusal to eat. Spitting up or vomiting.

How do they test for galactosemia in infants?

Genetic testing for galactosemia can be performed on a CVS or amniotic fluid sample. This test evaluates the likeliness that the disorder is present in a fetus. Genetic testing is employed after birth to determine the exact type of GALT gene mutation in an infant who has a confirmed GALT enzyme deficiency.

How is galactosemia diagnosed?

Galactosemia is usually diagnosed though tests that are done as part of newborn screening programs. A blood test will detect high levels of galactose and low levels of enzyme activity. The blood is usually taken by pricking a baby’s heel. A urine test may also be used to diagnose this condition.

What are the signs and symptoms of galactosemia?

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.
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What do you feed a baby with galactosemia?

A child on a galactose-restricted diet can eat most foods containing protein, such as beef, poultry and eggs. They can also eat most types of fruits, vegetables, and grains.

A person with galactosemia must avoid foods containing milk and all dairy products, such as:

  1. Cow’s milk.
  2. Butter.
  3. Yogurt.
  4. Cheese.
  5. Ice cream.

What happens if galactosemia is not treated?

Most untreated children eventually die of liver failure. Surviving babies who remain untreated may have intellectual disabilities and other damage to the brain and nervous system. Even with adequate treatment, individuals with galactosemia may develop one or more of the following: Early cataracts.

Can babies with galactosemia be breastfed?

There is no cure for classic galactosemia; instead, children are treated with a special galactose-free diet in which they avoid all milk and milk-containing products as much as possible for the rest of their lives. This includes: Breastmilk.

What is the life expectancy of someone with galactosemia?

With a galactose-restricted diet patients have a normal life expectancy. However, patients may still suffer long-term complications such as problems of mental development, disorders of speech, hypergonadotrophic hypogonadism and decreased bone mineral density (Bosch 2006).

What is the difference between galactosemia and lactose intolerance?

People with galactosemia usually have no problems digesting lactose or absorbing galactose. The problems occur after galactose has entered the blood stream. People who are lactose intolerant must avoid large amounts of lactose in foods but can usually still digest and metabolize galactose.

What is the survival rate for galactosemia?

Without treatment, mortality in infants with galactosemia is about 75%. Galactosemia is inherited in an autosomal recessive manner, meaning a child must inherit one defective gene from each parent to show the disease. Heterozygotes are carriers, because they inherit one normal gene and one defective gene.

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When do symptoms of galactosemia occur?

If your newborn has classic galactosemia, they’ll appear normal at birth. Symptoms start to show up within a few days after they begin to drink breast milk or formula with lactose — the milk sugar that contains galactose.

How does galactosemia cause mental retardation?

The mental retardation that is sometimes observed in galactosemic children may be caused by the high galactose level, the low glucose level, or both. It has been estimated that hereditary intolerance to galactose occurs in approximately one in 18,000 infants.

Is galactosemia a disability?

The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.

Can you outgrow galactosemia?

Galactosemia is a lifelong condition that children will not outgrow. However, galactosemia can be easily managed by following a galactose-free diet.

Is there galactose in breast milk?

Galactosemia means “galactose in the blood”. Babies with this metabolic condition are not able to metabolize a certain type of sugar (galactose) found primarily in breast milk, cow’s milk, and dairy products. When galactose can’t be broken down and digested, it builds up in the tissues and blood in large amounts.

How common is Duarte galactosemia?

Duarte galactosemia (DG) is much more common than classic galactosemia, and is estimated to affect close to one in 4,000 infants born in the United States.

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