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 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
♦ Weight loss
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
♦ Fine motor difficulties
♦ Reproductive problems
♦ Low bone mineral density
♦ 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.
There are four main types of galactosemia disorders.
♦ Classic variant galactosemia (Type 1): This is the most common type that appears in infancy. If not given a low-galactose diet right away, symptoms appear within days of birth.
♦ Galactokinase deficiency (Type 2): This is an autosomal recessive disorder that causes the buildup of galactose as a result of mutated genes that trigger activation of the enzyme needed to break the sugar down.
♦ Epimerase deficiency (Type 3): Another rare autosomal recessive disorder involving the enzyme epimerase, and without this enzyme, galactose can accumulate.
♦ Duarte variant galactosemia: This type is similar to classic galactosemia, except that patients with this type have a partial deficiency, whereas those with classic galactosemia have a complete deficiency.
♦ Type 1 occurs in 1 out of every 30,000 to 60,000 babies.
♦ Type 2 is less common, occurring in 1 out of every 100,000 babies.
♦ The other two types of galactosemia are very rare.
♦ This condition is more common among those of African and Irish descent.
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.
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.