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Congenital amino acid metabolism disorder is one of three rare congenital metabolic disorders in newborns. There is no cure for the disease, only treatments aimed at limiting the symptoms of the disease.
1. What is congenital amino acid metabolism disorder?
Metabolism is the process by which the body creates energy from food (food made up of proteins, carbohydrates and fats) that people eat every day. The digestive system will convert food into sugars and acids to create energy for the body to use immediately or store it in the body.
However, when there is a disorder of amino acid metabolism, the mutated genes make the enzyme unable to synthesize, break down or absorb amino acids from protein-containing foods (meat, fish, eggs, milk...). This leads to the accumulation of metabolic products and abnormal metabolites in cells and organs that cause disease.
Rối loạn chuyển hóa axit amin là hệ tiêu hóa không chuyển hóa được thức ăn thành dưỡng chất
2. Causes of congenital disorders of amino acid metabolism
Congenital amino acid metabolism disorder used to describe a group of molecular genetic diseases. The cause of innate amino acid metabolism is a genetic disorder leading to defects in the structure and function of enzymes, hormones, receptors, transport proteins and factors involved in the metabolism of nutrients in the body. human body.
Congenital amino acid metabolism disorder is one of three rare congenital metabolic disorders in infants (inborn sugar metabolism disorder and inborn fat metabolism disorder). At the same time, the disease also causes very high mortality in children.
3. Symptoms of congenital amino acid metabolism disorder
Congenital amino acid metabolism disorder is difficult to detect and can be confused with a number of other diseases. The disease progresses quickly, some common symptoms in children include:
Lethargy, lethargy, stop feeding, vomiting, coma, convulsions High fever, poor health, growth retardation, malnutrition , bloated stomach
Bệnh rối loạn chuyển hóa axit amin bẩm sinh của trẻ rất khó phát hiện
Prolonged jaundice ; Unusual foul-smelling urine and sweat Diarrhea and dehydration Rapid breathing, pauses in breathing, or irregular heartbeat
4. Methods of treating congenital amino acid metabolism disorders
Inborn amino acid metabolism disorders in general and the group of congenital metabolic disorders do not have a radical treatment method. Treatment is aimed at limiting the symptoms of the disease. Some measures to limit the effects of the disease such as:
Diet: Avoid foods that cannot be metabolized by the body. Periodic health checkups. Supplement vitamins and minerals necessary for the body. Preventing death from congenital metabolic disorders needs attention. Therefore, the most important thing is proper diagnosis and early treatment to avoid health and mental sequelae and maintain a healthy life.
Cho trẻ đi khám sức khỏe định kỳ để sớm phát hiện và ngăn chặn bệnh
For high-risk subjects such as: Mothers who continuously have children who die after giving birth or at least one baby is determined to have an inborn metabolic disorder; Parents carry genes that cause congenital metabolic disorders; If the family has had relatives or brothers with similar symptoms and died but the cause is unknown, etc., it is necessary to perform prenatal and postnatal screening tests for the child at birth.
Pediatrics department at Vinmec International General Hospital is the address for receiving and examining diseases that infants and young children are susceptible to: viral fever, bacterial fever, otitis media, pneumonia in children, ... With modern equipment, sterile space, minimizing the impact as well as the risk of disease spread. Along with that is the dedication from the doctors with professional experience with pediatric patients, making the examination no longer a concern of the parents.
Customers can directly go to Vinmec Health system nationwide to visit or contact the hotline HERE for support.
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