Metabolic disorders in infants: What you need to know

The article was professionally consulted by Doctor Nguyen Hung Tien - Department of Pediatrics - Neonatology, Vinmec Hai Phong International General Hospital. Uncle has more than 8 years of experience in the field of Internal Medicine - Neonatology, specializing in Emergency Resuscitation, Pediatric Cardiology, Neonatal Resuscitation; trained nationally and internationally. His strength is examination, emergency, consultation and treatment of common diseases in children, newborns, birth defects.

Metabolic disorder is one of the diseases that cause very high mortality in infants, it causes many dangerous diseases. Therefore, in order to minimize the dangers of this disease, parents need to understand what metabolic disorders in humans are, and the manifestations when infants have metabolic disorders.

Neonatal metabolic disorder is one of the rare congenital diseases in newborns, caused by deficiency of enzymes, receptors, transport proteins or synergistic factors in amino acid metabolism. , fatty acids and organic acids, change the synthesis or degradation cycles of substances in the body, forming abnormal products that are toxic to cells and impair the function of some organs in the child's body.
Metabolic disorders in infants include 3 main groups:
Disorders of sugar metabolism. Disorders of protein metabolism (amino acids). Disorders of fat metabolism (fatty acids). This is a disease that causes many dangers to children, it can take a child's life at any time, especially a newborn baby. Therefore, early detection of this metabolic disorder is very important. When suspecting that your child has this disease, it is necessary to take the child to a medical facility immediately for expert advice, diagnosis and treatment.

Proteins, lipids and carbohydrates are the 3 main components in each person's diet. When entering the body, they will be converted into energy to supply the body to exist and develop.
However, to convert to energy, it requires the presence of many enzymes, hormones, receptors, transport proteins and other synergistic factors (cofactors), these components will be synthesized under control. control of the respective genes and also the individual genetic factors of each organism.
For some reason, the genes involved in the metabolism of these substances are mutated, the corresponding enzyme will not be synthesized, leading to metabolic disorders, as a result, some substances of the body are damaged. deficiency due to not being metabolized while some other substances are too much, causing stagnation in the body and harm to children.

When there is a metabolic disorder, the child often has the following manifestations:
The child is lethargic, refuses to breastfeed, vomits, in severe cases, the child may have a coma and convulsion. Accompanied by fever, the child's health deteriorates, the person is thin and sick, the abdomen is distended, the urine and sweat have an unusual odor. In children with diarrhea and dehydration, this symptom is easily confused with diarrhea. The baby's heart rate is irregular, and although the baby has no history of asphyxia at birth, the baby still has tachypnea or stops breathing. In the case of severe metabolic disorders, it can cause death in children.

Currently, metabolic disorders in children still do not have a radical treatment, all treatment methods are aimed at limiting the symptoms of the disease. Here are some common prevention and treatment methods for children with congenital metabolic disorders:
Before getting married, it is necessary to go to a medical facility for medical examination and genetic counseling. transmission and prenatal screening. This is an extremely necessary thing because through genetic testing, chromosomal analysis can help identify future parents who carry a mutated gene related to metabolic disorders or not.
Vinmec Times City Hospital has implemented a pre-pregnancy health care and counseling program with services including a screening program to detect healthy people carrying disease genes. As one of the leading units in the field of fertility examination, counseling and intervention, for couples preparing to enter married life, or married couples who do not know if they carry the gene. disease or not.
Those at risk should pay special attention:
Pregnant women who continuously have a child who dies after giving birth and one of the children has been diagnosed by a doctor as having an inborn metabolic disorder. A parent who carries a gene with an inborn metabolic disorder. Family history of brothers, relatives with similar symptoms and died at that age with unknown cause. Newborn screening for babies after birth: Newborns should be screened at birth for early detection of congenital metabolic disorders.

Methods of treating metabolic disorders in infants:
Appropriate diet: For children with congenital metabolic disorders, it is very necessary to adjust the child's diet, Note to avoid foods that the child's body cannot metabolize. For infants with this condition, specially formulated formulas must be used. For older children, the diet must be strictly controlled but still ensure the nutritional needs necessary for the growth and development of the child. Should supplement vitamins and minerals necessary for children: To increase resistance and increase the ability to metabolize substances in the body of children. Substances that cannot be metabolized by the child's body must be supplemented in a form that the child can absorb. Periodic health check-up for the child: To ensure that the child's body indexes are always kept at a stable level In addition, a number of other methods such as stem cell transplantation, bone marrow transplantation are the first steps that bring promise in the radical treatment of this disease. Countries around the world including Vietnam are still working hard to prevent infant mortality from metabolic disorders. However, the most important thing to solve this problem is still the correct recognition of metabolic disorders in infants by all parents. Parents should learn carefully the possible risks to their children, how to prevent this disease right from the days of planning to become pregnant so that their baby is always born healthy and developed. normal development like any other child.
As a key area of ​​Vinmec Health system, Pediatrics Department always brings satisfaction to customers and is highly appreciated by industry experts with:
Gathering a team of top doctors and nurses in Pediatrics : consists of leading experts with high professional qualifications (professors, associate professors, doctorates, masters), experienced, worked at major hospitals such as Bach Mai, 108.. Doctors All doctors are well-trained, professional, conscientious, knowledgeable about young psychology. In addition to domestic pediatric specialists, the Department of Pediatrics also has the participation of foreign experts (Japan, Singapore, Australia, USA) who are always pioneers in applying the latest and most effective treatment regimens. . Comprehensive services: In the field of Pediatrics, Vinmec provides a series of continuous medical examination and treatment services from Newborn to Pediatric and Vaccine,... according to international standards to help parents take care of their baby's health from birth to childhood. from birth to adulthood Specialized techniques: Vinmec has successfully deployed many specialized techniques to make the treatment of difficult diseases in Pediatrics more effective: neurosurgery - skull surgery, stem cell transplantation. blood in cancer treatment. Professional care: In addition to understanding children's psychology, Vinmec also pays special attention to the children's play space, helping them to have fun and get used to the hospital's environment, cooperate in treatment, improve the efficiency of medical treatment.