Every form of galactosemia corresponds to a metabolic disease and is characterized by a lack of enzymes. The disease is based on a genetic mutation that causes disturbances in the breakdown of galactose into glucose. Since no causal treatment option is available for those affected, the prognosis for the patient is in many cases extremely unfavorable.
What is galactosemia?
According to WHOLEVEHICLES, Galactose is a natural, sweet monosaccharide with the molecular formula C6H12O6. The substance is an important metabolite within the human organism. The intestine absorbs galactose ingested with food in order to supply it to the liver and to introduce it into the carbohydrate metabolism via enzymatic processes.
The processes of the galactose metabolism can be disturbed by different conditions. A congenital disorder of the metabolic pathway is present in patients with galactosemia. Those affected cannot metabolize the monosaccharide sufficiently. As a consequence, your galactose blood level rises.
Disturbances of the galactose metabolism can cause the carbohydrate metabolism to come to a complete standstill. Different enzymes play a role in the metabolic pathway. Any deficiency in these enzymes is a pathological condition. There are different sub-forms of galactosemia, which are characterized by different degrees of severity and are referred to as GALT, GALK and GALE galactosemia.
Causes
Every form of galactosemia is due to a lack of galactose metabolic enzymes. Galactose-1-phosphate uridyltransferase deficiency, known as GALT galctosemia, is the most common galactosemia. The prevalence is given as one case in 40,000 newborns. Galactosemia is less often due to a galactokinase or UDP-galactose-4-epimerase deficiency.
Both enzymes do not cause symptoms as long as the deficiency remains incomplete. Symptoms only appear when one of the enzymes is completely absent. The primary cause of any form of galactosemia is a genetic mutation. GALT galactosemia is a mutation in the GALT gene on chromosome 9.
Like the other two forms, GALT galactosemia can be inherited. It is inherited in an autosomal recessive manner. The consequence of the GALT mutation is a disruption in the conversion of galactose into glucose. This leads to an excessive accumulation of galactose-1-phosphate in organs such as the liver, brain, kidneys and erythrocytes. The individual systems are damaged by toxicity.
Symptoms, ailments & signs
The first symptoms of galactosemia are manifested in the newborn age. In addition to drinking weakness, vomiting occurs. In addition, the patients often show jaundice. Septic conditions can occur. The liver dysfunction of those affected increases the longer the milk diet is continued.
Coagulation disorders of Quick values below ten percent occur in association with an increase in transaminases. The affected children bleed from the puncture canals with a distinct prolongation. The eye lenses become cloudy bit by bit (cataracts). The further the disease progresses, the more apathetic the children become.
In the late stages, they lose consciousness. The hepatic coma occurs. Only a few children survive the critical phase. Survivors often suffer from mental impairments later in life, malfunction of the ovaries due to hormone deficiency, or blindness.
Diagnosis
In the past, the diagnosis of galactosemia up to the stage of hepatic coma has not been made. Due to the medical progress of the past decades, the diagnosis can now be made by simply detecting the toxically damaged erythrocytes. In addition, the activity of the affected enzymes can be determined with the Beutler test.
Test procedures also exist for galactose-1-phosphate and galactose. Since the recent past, nationwide newborn screenings for the disease have become commonplace. The prognosis for patients with galactosemia is rather poor. In many cases, they fall into hepatic coma shortly after birth.
Complications
The galactosemia leads to metabolic problems. In most cases, the patient suffers from poor drinking and severe vomiting at a very young age. As fluid is also lost through vomiting, dehydration occurs, which is a very unhealthy condition for the patient. Jaundice can also occur.
The galactosemia also causes discomfort and complications in the eyes, so that a cataract develops. In the worst case, this can lead to the complete loss of the patient’s vision and thus drastically reduce the quality of life. As the disease progresses, the so-called hepatic coma also occurs and many sufferers lose consciousness.
As a rule, galactosemia cannot be treated causally, so that the person affected has to rely on a strict diet for their entire life. The baby food must also be adjusted accordingly. However, vegetables are also unsuitable for the patient, so that there are severe restrictions in food intake.
These restrictions often lead to development disorders and retardation. Sometimes the parents are psychologically stressed by the galactosemia and suffer from depression.
When should you go to the doctor?
If parents notice poor drinking and vomiting in their child, galactosemia may be present. A doctor should be consulted if the symptoms have not subsided within one to two days at the latest. If there are signs of jaundice, an immediate doctor’s visit is indicated.
Cataract symptoms and apathetic behavior are also clear warning signs that need to be clarified. If the galactosemia is not treated, there is a risk of hepatic coma, which must be treated by intensive care in any case.
The metabolic disease mainly affects children who are deficient in certain galactose metabolic enzymes. If such a deficiency has been diagnosed, the symptoms mentioned should be clarified immediately. After the initial treatment, further medical examinations are usually required. If there are signs of mental impairment, visual impairment or malfunction of the ovaries, the child should be taken to the responsible doctor.
In addition, therapeutic treatment is usually useful. Especially children who suffer from permanent damage as a result of the illness require additional support from a psychologist and / or psychotherapist.
Treatment & Therapy
A causal therapy is not yet available for patients with galactosemia. Causal approaches to solving genetic diseases would be conceivable at most with gene therapy. So far, however, gene therapy is not in the clinical phase. Galactosemia patients are therefore treated exclusively supportively.
Not even a promising symptomatic treatment is available for them. A supportive therapy step is the lifelong lactose-free and low-galactose diet. All foods with a high galactose content are taboo. These include, above all, foods such as milk and dairy products.
The lactose-free milk available on the market is also unsuitable for patients with galactosemia. The lactose is split into galactose and glucose during the manufacture of the products. This means that lactose-free milk products are lactose-free, but still contain galactose. Supportive diet measures are particularly difficult for newborns.
You will also have to avoid breast milk and conventional baby food. Products such as baby food based on soy are alternatives. Legumes such as peanuts and peas are also removed from the menu for all galactosemia patients. These products contain substances that are broken down by the intestine to form glalactose.
In turn, vegetables contain free galactose, so that vegetable products are unsuitable for those affected. Even in the area of body care, it is important to pay attention to the ingredients of individual products. Creams, toothpastes or soaps, for example, are often contaminated with lactose.
Even if all of the above steps are followed, developmental disorders can still occur. The human body itself produces galactose to a certain extent. This endogenous galactose can lead to developmental delays. Against mental retardation can proceed under certain circumstances, with early intervention.
Outlook & forecast
The prognosis for galactosemia is poor in many patients. A full recovery or freedom from symptoms has not yet been documented. The genetic disease cannot be cured due to legal and medical possibilities as things stand. Rather, a large number of newborns develop dramatically immediately after birth. Many infants fall into a comatose state within the first few minutes of their lives.
The risk of developing a hepatic coma is significantly higher in those with galactosemia. This reduces life expectancy. There is also the risk of various complications and lifelong restrictions. There is also no adequate treatment option for galactosemia, which is aimed at completely alleviating the symptoms.
The therapy is aimed at promoting wellbeing. Individual countermeasures are initiated depending on the complaints. A special diet is used to support the treatment. Avoiding dairy or vegetable products, as well as certain cosmetics, significantly improves the patient’s general well-being.
If there is a reduction in mental performance, early intervention programs can improve cognitive possibilities. In the case of general disorders of the child’s development, various support measures are also offered. They contribute to an improvement in the general quality of life.
Prevention
Galactosemia can only be prevented through genetic counseling in the family planning phase. Couples at increased risk of inheritance may choose not to have children of their own and consider adoption instead.
Aftercare
In most cases, there are no special follow-up options available for galactosemia. The person concerned is primarily dependent on direct medical treatment by a doctor in order to permanently alleviate the symptoms. As a rule, lifelong treatment is necessary as galactosemia cannot be treated causally.
Since the disease is also a hereditary disease, genetic counseling can be given if you want to have children in order to prevent the disease from being passed on to the children. In the case of galactosemia, the person affected is dependent on a special diet. Dairy products should be avoided.
Medicines may also be taken when taking dairy products to help the body digest them. As a rule, a doctor can also be consulted here, who can draw up a nutrition plan for the patient. In many cases, contact with other sufferers of galactosemia also has a positive effect on the course of the disease, as this can lead to an exchange of information. There are usually no particular complications with this disease and there is no reduced life expectancy for those affected.
You can do that yourself
The galactosemia requires medical treatment in any case. Affected parents can support the therapy by observing the child closely and immediately consulting a doctor in the event of unusual symptoms.
Drinking weakness can be alleviated by conscious stimulation of the lips, the floor of the mouth and the tip of the tongue, in addition to the drug treatment. Most children react positively to these stimuli and in many cases sucking on the finger turns into a natural drinking reflex.
Milk should be given from a drinking bottle, as this makes it easier to control the amount consumed. It is advisable to make a note of the liquid absorbed and to speak to the pediatrician responsible if there are significant deviations from the required amount.
Gentle abdominal massages help against nausea and vomiting, but also certain natural remedies, for example chamomile tea or treatments with valerian. Expert advice is also required in the case of visual disturbances. Parents should primarily take care that the child does not fall or injure themselves as a result of the reduced eyesight. If the symptoms do not go away despite all the measures taken, a further visit to the doctor is indicated. There may be a serious illness that needs to be clarified and treated.
