This is an automatically translated article.
Galactosemia (GALT) is a disease associated with congenital disorders of galactose metabolism. When the disease is not detected and treated early, newborn babies are at risk for health and life. Newborn screening is recommended for all newborns, especially high-risk infants.
1. What is a simple sugar metabolic disorder?
Galactosemia, also known as a disorder of simple sugar metabolism, is understood as an excess of galactose in the blood (galactosemia in blood). This is an inherited recessive trait. The sugar galactose is a component of the large sugar lactose. This type of sugar can be found in all dairy products and in many artificial baby formulas. Various foods may also have small amounts of galactose present.
If the infant has a classic disorder of simple sugar metabolism without restricting foods containing galactose, it will lead to many complications. Typical complications include difficulty breastfeeding, growth retardation, slow growth in weight and height, yellowing of the skin and eyes, liver damage, bleeding, and even death.
2. Clinical signs of disordered sugar metabolism
2.1. Galactosemia due to GALK . deficiency
Children with this form of galactosemia may be at risk of developing cataracts and pseudo brain tumors. When the concentration of galactose in the blood and tissues exceeds the standard threshold, galactose is converted to galactitol. At this time, the disease will have obvious clinical manifestations.2.2. Galactosemia due to lack of GALT
Children with this form of galactosemia are called classic galactosemia, with symptoms as diverse as:
failure to grow or retardation in height and weight; Frequent vomiting and diarrhea, especially in response to foods such as milk; Hypoglycemia and increased blood ammonia levels; Hepatocellular damage, the most obvious manifestation of jaundice; Kidney damage; Cataract oil spill; Increased levels of albuminuria, chloremic acidosis, aminoaciduria; Very slow intellectual and language development; The disease can be a cause of death in children.
Trẻ chậm phát triển là biến chứng của bệnh rối loạn chuyển hóa đường đơn
2.3. Galactosemia due to lack of GALE
Galactosemia due to GALE deficiency is very rare. For this form of disease, it usually does not cause dangerous complications for children, but it is necessary to follow a strict diet and limit the use of foods containing galactose to prevent dangerous acute signs.
3. Diagnostic tests for disorders of sugar metabolism
3.1. Heel blood sample test
The newborn galactosemia screening test usually takes a heel blood sample. A few drops of blood dripped onto the circle on the special stapler. The skin of the heels is the least sensitive area, so it should not cause much pain for babies.
The test is usually done with the baby right after birth from the first 2-3 days. If the heel spur test indicates a high risk, the child will be ordered to have a venous blood sample to be retested.
3.2. Venous blood sampling test
The nurse will take a venous blood sample from the neonate according to the following procedure;
Wrap an elastic band around the child's upper arm to show the baby's veins; Clean the area of the hand that is going to be inserted with alcohol. Insert a needle into a vein and draw a small amount of blood for testing. Once enough blood has been drawn, remove the gauze from the child's arm and place a cotton ball or gauze pad over the needle site to stop the bleeding. Apply little pressure to the site where the blood was drawn. Testing on a venous blood sample gives more accurate results, from which the doctor will make an accurate diagnosis and have an early treatment.
4. Treatment of Galactosemia
Children with simple sugar metabolism disorder, if not treated soon after birth, can be permanently affected. Limit the use of foods containing lactose. Galactosemia Cataracts: When having this sign in children, parents immediately adjust their child's diet by not taking foods containing galactose. Some severe cases require surgical intervention.
Xét nghiệm sàng lọc bệnh Galactosemia ở trẻ sơ sinh thường lấy mẫu máu gót chân
5. Prevention of diseases of sugar metabolism disorders
Children with congenital simple sugar metabolism disorder need:
Have a free-lactose diet, which means there is no lactose in the menu with healthy foods. A diet that helps prevent early symptoms such as vegetables, fruits, whole grains, breads, fats and sugars that do not contain galactose. Regularly monitor the health of sick children with blood and urine tests. This is a treatment for early detection if Galactosemia is not well controlled. Thus, nutrition for children plays an extremely important role in preventing complications and treating Galactosemia. The disease does not currently have a complete cure, but children with the disease need to follow a strict diet and prevent complications for life.
Pediatrics department at Vinmec International General Hospital system is a prestigious place, the address to receive and examine many diseases with infants as well as young children, including galactose metabolism disorder .. .. With the most modern equipment system, sterile space, minimizing the impact as well as the risk of disease spread. In addition, the dedication from doctors, nurses with professional experience with pediatric patients, helps to best examine and care for children and is no longer a concern of parents.
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