Galactosemia
Galactosemia is called a rare, childhood hereditary ailment, expressed in disorders of carbohydrate metabolism. The nature of the disease lies in the mutation of a gene that controls enzymes that break down galactose.
Reasons
Milk sugar, entering the child’s body, normally breaks down into galactose and glucose. Galactose further decomposes to glucose under the action of enzymes. Gene mutations lead to the absence of the enzymes necessary for this, and undeveloped galactose begins to accumulate in the body, poisoning its tissues and organs, with further damage to the nervous system, liver, and organs of vision.
Types and forms
There is a classic form of the disease and the so-called Duarte variant, which is expressed in mental retardation, the development of cataracts and neurological manifestations.
By type , the disease is divided into:
easy;
average;
heavy.
Symptoms
The symptoms of the disease are wide and largely depend on the severity of the disease. A mild degree of galactosemia is usually detected by chance.
Among the main symptoms are intolerance to maternal or cow’s milk and the early rejection of the baby from the mother’s breast.
The severe course of the disease is associated with the development of symptoms such as diarrhea, enlargement of the spleen and liver, changes in the consistency of the latter, accumulation of fluid in the abdominal cavity. Jaundice develops on the skin and mucous membranes. The nervous system suffers, nystagmus and convulsions are observed on its part. There is poor muscle tone and lag in physical and nervous development. In urine tests, sugar and protein are detected. Increased bleeding may be associated, due to damage to liver functions (bleeding from the nose, in the gastrointestinal tract, from hemorrhoids, hemorrhagic rash on the skin).
Diagnostics
The diagnostic program for suspected galactosemia includes:
General examination of the child, as a rule, revealing ascitic abdomen and jaundice of the mucous membranes and skin.
There is a history of diarrhea, vomiting, enlarged liver, mental and physical retardation, clouding of the lens and decreased muscle tone.
A general blood test often shows the development of anemia.
In the biochemical analysis of blood, increased galactose levels and reduced glucose levels, reduced total protein, increased bilirubin and the level of liver enzymes.
In the urine analysis, there is an excess of galactose and an increase in protein and sugar.
Additionally assigned:
liver puncture;
Ultrasound of the abdominal cavity;
examination of the lens with a slit lamp.
Treatment
The main direction in treatment is to stop the effect of galactose on the child’s body. To do this, milk and dairy products should be excluded from the diet. Porridge should be cooked on vegetable, meat, fish broths or on water. The severe form of this disease condemns the patient to follow a diet with the exception of milk and dairy products throughout his life.
From pharmacological preparations are shown:
hepatoprotectors;
antioxidants;
vascular agents;
cocorboxylase, ATP and vitamin complexes.
Replacement or exchange blood transfusion is indicated as a means of restoring impaired liver functions.
Complications
The development of galactosemia can lead to such severe complications as:
cirrhosis of the liver;
bacterial sepsis;
intraocular hemorrhages.
Prevention
Measures of specific prevention of this disease have not been developed. Its nature is hereditary and therefore, the parents of a child suffering from galactosemia need to undergo genetic counseling when planning the next pregnancy.
Measures of early screening studies (blood sampling from the heel on the 3rd day of life) help to identify the activity of the enzyme responsible for the breakdown of galactose and prevent the development of severe symptoms of the disease.
