Posted by: wockhardthospitals | August 26, 2009

Galactosemia:Causes, Symptoms, Diagnosis and Treatment

Image Source: healthmad, Galactosemic

Image Source: healthmad, Galactosemic

Galactosemia is a condition that affects the body’s ability to use or metabolize a simple sugar called galactose resulting in the accumulation of galactose 1-phosphate in the body. Galactose is a primary part of a large sugar called lactose which is present in all dairy products and also in smaller quantities in many others foods.


Galactosemia is a hereditary condition, caused by the lack of a liver enzyme that is required to metabolize Galactose. This genetic disorder is transmitted as an autosomal recessive disease (a disease caused by the presence of two recessive mutant genes on an autosome) and is present in 1 out of 30,000 newborns.

There are primarily 3 types of galactose-1 phosphate, Uridyl Transferase Deficiency, Galactokinase Deficiency (Galactosemia type II) and Galactose Epimerase Deficiency (Galactosemia type III). Uridyl Transferase Deficiency is the most common and the most severe from of Galactosemia and the latter two show up with slightly different patterns and symptoms.


Some of the common symptoms are:

  • Jaundice

  • Vomiting

  • Poor feeding (baby refusing to drink milk-containing formula)

  • Poor weight gain

  • Lethargy

  • Irritability

  • Convulsions

Infants with Galactosemia will develop most of the above symptoms within days of drinking milk.

Continued intake of milk and lactose products will lead to further complications such as liver cirrhosis, cataract in the eyes, damage to the kidney, and even the brain may be affected leaving the child mentally retarded.


Blood tests can reveal high levels of galactose and galactose-1-phosphate in the blood. Further tests maybe required to find out which of the enzymes are missing. DNA Testing for Galactosemia can be very conclusive

Infants with the symptoms of Galactosemia should be administered enzyme tests without delay to avoid complications. Many countries in America and Europe have made it mandatory to screen every new born baby for this condition.


The Treatment for Galactosemia I, II and III is primarily the removal of galactose from the diet. All lactose products must be totally avoided. Milk and milk products contain the most amount of lactose; however it is also present in other foods such as legumes, organ meats and processed meats.

Infants will need to be fed with food that is lactose free such as soy formula, meat-base formula, or Nutramigen (a protein hydrolysate formula)

There is no definite cure for Galactosemia, the condition is life long and it can only be controlled. Doctors advise a calcium supplement for patients with Galactosemia as Milk is an important source of calcium for a growing child.

What does the doctor say?

It is very important for parents to educate their children to avoid milk and milk products. The ingredients on processed food must be read to avoid the accidental consumption of food containing lactose.

Dr. Vandana Rao, Consultant Pediatrician , Wockhardt Hospitals


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