Symptoms Of Galactosemia: Causes, Complications And Treatment

Galactosemia is a rare condition which afflicts how your body metabolizes galactose. Galactose, a simple sugar is present in milk, yogurt, cheese and other dairy products.

The condition is characterized by having excessive amounts of galactose in the blood. This build-up of galactose in the blood can result in serious complications; thus it is very essential that it is diagnosed without any delay and treated promptly.

Symptoms And Complications Of Galactosemia

Symptoms of galactosemia tend to develop several weeks after birth. Common symptoms include:

  • Loss of appetite
  • Jaundice
  • Vomiting
  • Diarrhea
  • Swelling of the liver
  • Damage to the liver
  • Accumulation of fluid in the abdomen
  • Abnormal bleeding
  • Fatigue
  • Irritability
  • Loss of weight
  • Infections

Multiple complications can develop if galactosemia is not diagnosed promptly and treated immediately.

Accumulation of galactose in the blood can be very dangerous and life-threatening.

Symptoms of galactosemia in adults

  • It affects the central nervous system and results in diminished IQ, cerebral and cerebellar atrophy, learning disabilities and cognitive dysfunction.
  • Women suffer from primary ovarian insufficiency.

Common complications include:

  • Liver impairment
  • Bacterial infection
  • Shock
  • Sepsis
  • Delayed development
  • Tremors
  • Speech trouble
  • Learning disability
  • Poor bone density
  • reproductive problems

Causes Of Galactosemia

Galactosemia occurs due to genetic mutations and an insufficiency of enzymes. This triggers an accumulation of sugar galactose in the blood. It is an inherited condition, and parents pass it down to their children. Galactosemia is a recessive genetic condition, thus two copies of the anomalous gene have to be inherited so that the disease manifests.

Treatment Options For Galactosemia

  • Galactosemia is diagnosed though investigations which are done as part of newborn screening programs. A blood test detects high levels of galactose and low levels of enzyme activity. Blood collected by pricking the heel of the baby.
  • A urine test also helps diagnose the condition.
  • Genetic tests diagnose galactosemia as well.
  • Once the diagnosis has been made, your health care provider / pediatrician will lay out the treatment regimen for you. The commonest treatment is a low galactose diet. You will be asked to stay away from milk and dairy products. There isn’t any cure for galactosemia nor is there any drug to reinstate the insufficient enzymes.
  • A low galactose diet decreases the risk of complications; however, it may not stop all of them. Some children still develop learning disability, speech delay, and reproductive issues.
  • Physical therapy and speech therapy need to be a part of the treatment plan.
  • Some children benefit from individual education plans; so confer with your pediatrician and counselor.
  • Controlling infections when they occur is very vital aspect of the treatment regimen. Anti-biotic treatment is necessary.
  • Genetic counseling as well as hormone replacement therapy is advocated.
  • To follow a low galactose diet, avoid the following foods – milk, cheese, yogurt and other dairy products. You can substitute these foods with dairy-free options, like almond or soy milk, or coconut milk.
  • Even human breast milk contains lactose and is not advocated for children who have galactosemia. Confer with your health care provider if you have concerns regarding not being able to breastfeed your baby.