Now, lactose is the main type of sugar found in milk, made of one molecule of galactose and one molecule of glucose. During digestion, the body breaks down lactose to galactose and glucose. Galactose is then changed into glucose and used as energy. The body uses galactose-1-phosphate uridyl transferase (GALT), an enzyme, to do its stuff with galactose and when it is missing galactose can't be converted to glucose and it builds up in the blood. Unfortunately, that excess of galactose may be life-threatening.
There are two types of galactosemia: classic galactosemia and mild galactosemia.
Classic galactosemia occurs when babies have GALT enzyme but not enough. Since babies depend on milk, they start to have health problem a few days after they get milk or milk products. The good news is that almost all cases of classic galactosemia can be diagnosed by newborn screening using DNA testing. In classic galactosemia brain, eyes, liver and kidneys may be affected, and children usually have diarrhea and vomiting within a few days of drinking milk.
Here are some early symptoms we can use to diagnose classic galactosemia: failure to gain weight, child doesn't grow, lethargy, poor feeding, irritability. If the condition is not treated the child will develop low blood sugar, will have seizures, enlarged not-functioning liver, jaundice, bleeding, blood infections that can lead to death, and there is also cataract and high levels of ammonia that may lead to death.
Now, galactosemia is a rare condition and mild galactosemia is a rare form of galactosemia and it may pass undetected during newborn screening. However, that's not bad: babies with mild galactosemia may need less treatment or no treatment at all.
Kids with mild galactosemia usually have less severe and some have no symptoms at all and don't need any treatment. However, they can develop cataracts, mild mental retardation, may be slow learners, may grow slower than other children and have problems with speech.
So, what to do if a DNA test shows galactosemia? The first thing to do is to start treatment immediately because galactose builds up in the blood fast and children who don’t start treatment shortly after birth may have very serious health problems. And the treatment is a special food plan with no lactose and galactose.
To newly born babies we will give a special formula free of lactose, usually made of soy. Warning to parents: Although special food is based on soy, you can't buy usual soy milk and give it to your baby because soy milk contains galactose.
Other patients must also avoid milk products, celery, basil, beets, cherries, spinach, plums, kiwifruit, cereals, some fast food hamburgers, eggs, pizzas, paprika, spices, figs, fish, and some tortillas, because they contain galactose. Galactose can also be found in some drugs.
Patients with classic galactosemia should eat lactose and galactose-free food for the rest of their life. The diet will vary depending on the age, weight, and blood test results but good diet with enough healthy ingredients can always be found.
Where there's no milk, there's no calcium. So, kids with galactosemia should take calcium supplements to prevent other health conditions. Vitamin D and Vitamin K may also be prescribed in some cases. When the diet is formed, the patient should be checked to see is the diet appropriate; sometimes it have to be changed a bit to suit that particular patient.
One of the most important things a parent can do is to tell teachers and everyone the kid is in touch with that the child has galactosemia and that milk-based food is out of the question.
Now, what about children with mild galactosemia? One group of them will live happily without any treatment and other group will have a slightly changed food plan and run around with the first group as nothing happened.
Abraham Eisenstein, MD ■