Definition

What is galactosemia?

Galactosemia is a pathological condition where the body is not able to metabolize sugar galactose resulting in various complications.

Individuals affected with galactosemia are unable to tolerate any form of dairy products and need to be extra careful when consuming foods containing galactose. Dairy product and milk causes excess generalized accumulation of galactose in the body. Excessive accumulation of galactose in liver, kidney, eyes and brain cells causes tissue damage.

This is an inherited disease, meaning it has been passed down through generations.

Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose.

  • Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications of this condition can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems caused by an early loss of function of the ovaries (premature ovarian insufficiency).
  • Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. 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.

How common is galactosemia?

Galactosemia is not common. It is more common disease observed among Irish population. Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. Galactosemia type II and type III are less common; type II probably affects fewer than 1 in 100,000 newborns and type III appears to be very rare. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of galactosemia?

Non-specific symptoms of galactosemia

  • Loss of weight
  • Weakness and lethargy
  • Fatigue
  • Refuse to drink milk
  • Failure to thrive

Specific symptoms of galactosemia

Central nervous system-

  • Convulsions
  • Irritable
  • Tremors
  • Learning disability
  • Speech disability

Liver effects

  • Jaundice
  • Yellow discoloration of urine
  • Pale clay color stool
  • Yellow skin
  • Yellow eyes

Gastrointestinal effect

  • Nausea and vomiting
  • Diarrhea

Eyes

  • Blurry vision
  • Diplopia

Signs of galactosemia

  • Hepatomegaly- Liver enlargement
  • Ascites- Fluid in abdomen

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

 

Causes

What causes galactosemia?

Dairy product

The lactose that is present in various dairy products is broken down by an enzyme called lactase into glucose and galactose.

Enzyme deficiency

  • Enzyme lactase deficiency is found in-patient suffering with Galactosemia.2
  • Enzyme lactase deficiency results in poor metabolism of galactose.

Toxic level of galactose

High concentration of galactose causes hepatomegaly, cirrhosis of the liver, kidney failure, damage to the brain and vision impairment.

Risk factors

What increases my risk for galactosemia?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is galactosemia diagnosed?

Urine examination

  • Urine test will reveal presence of
  • Amino acids
  • Ketone in urine
  • High level of galactose in urine

Blood examination

  • Blood sugar- presence of low blood sugar suggests persistent hypoglycemia
  • Blood Culture- blood culture may indicate E. coli sepsis
  • Enzyme activities in red blood cells- tested positive.
  • Galactosemia Test-Newborn screening
    • Evaluates 3 enzymes
    • Absence of any one of the 3 enzymes and high urine level of galactose is considered as diagnostic criteria.

How is galactosemia treated?

Please consult with your doctor for further information.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage galactosemia?

The following lifestyles and home remedies might help you cope with Galactosemia:

  • Avoid dairy product
    • Avoid any type of dairy product
    • Avoid breast feeding
    • Eliminate lactose and galactose from food.
  • Look for alternative to dairy product
    • Soy formula
    • Meat-based formula
    • Lactose-free formula
    • Calcium supplements

If you have any questions, please consult with your doctor to better understand the best solution for you.

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

Sources

Review Date: January 29, 2018 | Last Modified: January 29, 2018

Want to live your best life?
Get the Hello Doktor Daily newsletter for health tips, wellness updates and more.