Galactosemia is an inherited metabolic disorder in which patients have trouble breaking down galactose. This is being caused by a defect in the galactose-1-phosphate uridylyltransferase enzyme. 

Galactosemia knows two forms. Classic galactosemia and duarte galactosemia. Patients with classic galactosemia do not break down galactose resulting in an accumulation of galactose in the body. This will lead to various problems. Duarte galactosemia is a mild variant of classic galactosemia. Patients with duarte galactosemia also have a decreased ability to break down galactose, but do not present with symptoms.     

The incidence of galactosemia in the Netherlands is estimated to be one in every 40,000 births. This amounts to an average of 4 children born with galactosemia per year.  

Galactosemia is being caused by a deficiency of the Galactose-1-phosphate uridylyltransferase enzyme. Because of this deficiency patients cannot break down galactose properly, causing various symptoms.  

Patients with galactosemia become seriously ill from galactose in milk and milk products. The first symptoms often appear soon after birth when drinking (mother's) milk. The baby is drowsy and often sees yellow. There may also be feeding problems and a low blood sugar. If left untreated, babies can become seriously ill with liver and kidney failure and eventually die. When galactosemia is suspected after birth, the diet is changed to galactose-free foods (e.g., soy milk) as a precaution. Often the symptoms then disappear quickly.  

Although with diet, life expectancy is normal, complications can occur later in life. These include:

• Cognitive problems
• Language and speech problems
• Motor problems
• Hormonal problems
• Social problems
• Psychological problems

In the Netherlands, all newborn children are examined for galactosemia through the heel prick screening. Because the enzyme galactose-1-phosphate uridyltransferase (GALT) does not work properly, too much galactose is produced in the body. If the heel prick reveals a suspicion of galactosemia, you will be referred to one of the six metabolic centers in the Netherlands. When you are referred to the Center for Lysosmal and Metabolic Diseases, your child will be seen by the metabolic pediatrician. The pediatrician will take blood and urine samples to measure enzyme activity. In addition, DNA testing will be done.

There is no curative treatment available for galactosemia. Treatment is aimed at following a very strict galactose free diet. 

For children with galactosemia, until about the age of 18, the metabolic pediatrician is the primary care provider. After that, the patient will be transferred to the metabolic internist. Because the treatment of galactosemia involves following a strict galactose-free diet, your primary care provider works closely with the metabolic dietitian. You basically see both of them at every visit to the outpatient clinic.

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