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Inherited metabolic disorder is a metabolic disorder that is regulated by genes. Most people with inherited metabolic disorders carry genes that cause deficiencies in certain enzymes. Inherited metabolic disorders are classified into hundreds of types, whose symptoms, treatment, and prognosis are very different.
1. Overview of metabolism
Metabolism is a term that refers to the chemical reactions that occur inside the body to convert and use energy. Some examples of metabolism include:
Digesting carbohydrates, proteins, and fats in food to release energy. Convert excess nitrogen in the body into waste products excreted in the urine. Break down or convert substances into small molecules and transport them inside cells. Metabolism is an organized process and is arranged in a certain sequence. Raw materials, partially digested products, or waste products will be used, produced, transported and excreted. Enzymes are the main "workers", participating in most reactions in the metabolic chain.
Các enzyme đóng vai trò chính trong hầu hết các phản ứng chuyển hóa
2. Causes of Inherited Metabolic Disorders
Most inherited metabolic disorders are caused by the body not producing enough enzymes or the enzymes are produced in an inactive form. Depending on the function of each enzyme, an enzyme deficiency will either lead to the overproduction of toxins for the body or the failure to make the necessary products.
Genes play a key role in the production of enzymes for the body. Inherited metabolic disorders are passed on to the next generation in a recessive fashion. People with the disease inherit the disease gene from both parents who are healthy carriers of the disease gene. Parents carry only one disease allele, the amount of enzyme in the blood is enough, so there is no clinical manifestation. Meanwhile, the patient, because he carries two disease alleles, cannot produce enough corresponding enzymes and manifest the disease.
The main pathogenic mechanism is the phenomenon of genetic mutations that can occur randomly in many different generations. The mutant genes will be passed on for generations to come.
Hereditary metabolic disorder is a rare medical condition in the community. The average frequency of this condition ranges from 1:1000 to 1:2500 births.
Đột biến gen là nguyên nhân chính dẫn đến rối loạn chuyển hóa di truyền
3. Diagnosis of inherited metabolic disorders
Inherited metabolic disorders are present at birth and in some cases can be detected by routine screening measures. All states in the United States have screening programs for phenylketouria syndrome. Some states may include screening tests for galactosemia. However, there is no single place that can have enough testing for all the different types of inherited metabolic disorders.
Improving testing techniques is a measure to help expand the scope of screening for inherited metabolic disorders. An inherited metabolic disorder that is not diagnosed at birth means that it is missed for a long time until symptoms appear. Once clinically present, an inherited metabolic disorder can be diagnosed with specific blood tests or DNA testing. Patients should have access to referral centers for more accurate diagnoses.
4. Treatment of Inherited Metabolic Disorders
Currently, the treatment methods for inherited metabolic disorders still face many limitations. Disease-causing genes can be detected but cannot be corrected. Therefore, the goal of treatment is focused on solving the problems caused by the metabolic disorder. Principles of treatment of inherited metabolic disorders include:Limit the use of foods or drugs that are not metabolized. Supplementing with alternative enzymes or active ingredients to restore normal metabolism Increases elimination of toxins accumulated by the body due to metabolic disorders.
Điều trị rối loạn chuyển hóa di truyền bằng cách ngưng sử dụng các loại thuốc không được chuyển hóa
Besides treatment, it is necessary to monitor the patient in many other aspects such as:
Personalize the diet, exclude certain nutrients. Replace enzymes with oral tablets, promote metabolism . People with inherited metabolic disorders should be monitored and treated in a senior medical center experienced in rare health conditions. Children and adults with the disease can be tired, physically weak, and need hospitalization and special care. Treatment during these stages should focus on essential care and improving organ function.
Vinmec International General Hospital is the address for examination, treatment and prevention of diseases. When performing the examination process at Vinmec, customers will be welcomed and used modern facilities and equipment along with perfect medical services under the guidance and advice of experts. Good doctors, well-trained both at home and abroad.
Customers can directly go to Vinmec Health system nationwide to visit or contact the hotline here for support.
References: webmd.com, mayoclinic.org
