Galactosemia is a rare genetic disorder which impacts the way your body processes the sugar
galactose. Galactose is a sugar found in dairy products such as milk, cheese, and yogurt, and
when it combines with the sugar glucose, it makes lactose. With galactosemia, you have too
much galactose in your blood, and this can cause serious health complications.
Galactosemia is an inherited disorder that parents pass down to their children. Parents are
considered to be carriers of the disease. It is a recessive disorder, which means that two copies of
the defective gene are needed for the disease to show. A child will, therefore, inherit one
defective gene from each parent. Mutations in genes and a deficiency of certain enzymes are the
reason you develop galactosemia. Without the genes or enzymes, galactose builds up in your
blood.
Galactosemia is almost always diagnosed after birth. Symptoms will appear within days of birth
if the child is not on a low-galactose diet. It is rare that the disorder would remain undiagnosed
into adulthood. Genetic testing can be done during pregnancy and before determining if a parent
carries the recessive gene. If both parents are carriers, then the chances of the child getting the
disorder are high, and a low-galactose diet can be started right away. The sooner the diet can be
started, the lower the risk will be for learning deficiencies and behavioral problems.
Galactosemia symptoms in adults are very similar to those in newborns when the condition is
typically diagnosed. The symptoms typically develop several days to weeks after birth, and
include: Loss of appetite, Fluid swelling in the abdomen, Diarrhea, Vomiting, Irritability, Weight
loss, Weakness, Fatigue, Jaundice.
If galactosemia is left untreated, multiple complications can develop because the buildup of this
sugar in the blood is very dangerous. Without intervention, galactosemia can be life-threatening
to newborns and children. If adults do not follow a low-galactose diet, these same complications
can develop later in life too, Liver damage or failure, Serious bacterial infections, Cataracts, Fine
motor difficulties, Reproductive problems, Low bone mineral density, Shock, Tremors, Sepsis (a
life-threatening condition caused by infections)
There are several screening processes used to diagnose galactosemia. Blood tests detect the low
levels of enzymes and high levels of galactose, urines tests can also be done to diagnose the
condition, and genetic testing is able to diagnose the condition before a baby is born. Parents that
know they carry the gene are advised to get tested before having a baby, to determine the
likelihood of passing the gene onto their child.
A low-galactose diet is the best treatment for galactosemia, which means milk and other dairy
products cannot be consumed. There is no cure or medication that can replace the missing
enzymes. Following a low-galactose diet can help to reduce the risk of complications but not all
of them. Some children can still develop learning disabilities, speech troubles and delays, and
reproductive issues. Speech therapy can help with speech difficulties and educational plans, and
interventions can help to correct learning disabilities. Genetic counseling and hormone
replacement therapy can also help reduce the risks that come with this condition.
Being proactive is the best approach to this disorder, and starting children on a low-galactose diet
from birth will ensure they live a healthy life.
The best diet for those diagnosed with galactosemia is a low-galactose diet restricted mostly to
foods containing protein. Beef, poultry, eggs, beans, and legumes are all great. Most fruits,
vegetables, and grains are also allowed on this restricted diet. Since galactose is found in dairy
products, these are to be avoided, and because galactosemia is a lifelong condition, dairy needs
to be cut from the diet for life.
Following a galactose-free diet is the only way to prevent symptoms and control the condition.
Cutting dairy can cause calcium levels to get low, so a supplement is necessary to ensure
children and adults with the condition get this vital nutrient. It is important to speak with your
doctor and a nutritionist to make sure you get the foods you need to maintain adequate vitamin
and mineral consumption. Along with calcium supplements, vitamins C, D, and K, are also
recommended.
As there is no medication that can replace the lost enzymes, there is no cure for galactosemia.
Studies are ongoing to discover alternative treatments that can support health when used in
conjunction with a low-galactose diet. Polyphenols, which are powerful plant compounds, are
being studied for possible treatment options. These compounds can treat cataracts, which are a
common complication of galactosemia.
This rare and inherited disorder does not have a cure, and there are serious health complications
associated with it. If galactosemia is not diagnosed at an early age, there can be serious
consequences. Early diagnosis and following a low-galactose diet is the only way to reduce more
serious risks and successful management of the disorder.