What to do if amino acid metabolism is abnormal

Amino acids are an essential nutrient for the human body. If there is an abnormality in amino acid metabolism, it will cause great harm to the health of the body. It often leads to abnormal accumulation of amino acids in the body, which will affect the respiration of cells. For children, it may cause intellectual disabilities, and for ordinary people, it can easily lead to paralysis. When there is an abnormality in amino acid metabolism, it must be treated promptly and effectively.

What to do if amino acid metabolism is abnormal

Amino acid metabolism diseases are treatable. As long as you actively cooperate with the doctor, there is a possibility of cure. Specific treatment: Patients with aminoaciduria who have no obvious clinical symptoms do not need special treatment.

Symptomatic treatment alone cannot change the prognosis and patients with abnormal amino acid metabolism, such as children with abnormal amino acid metabolism who have seizures, must be treated with anti-epileptic drugs, but these drugs cannot improve the abnormal amino acid metabolism. Amino acid metabolism disorders that can be controlled by trying dietary therapy include amino acid metabolism diseases that are effectively treated with an oral low-protein diet, such as maple syrup urine disease and hyperammonemia caused by urea metabolism disorders; and restricting amino acid intake, such as hyperlysinemia.

What are the symptoms of abnormal amino acid metabolism?

1. When amino acid metabolism is disordered, certain amino acids accumulate abnormally in tissues, hindering protein synthesis in the brain, affecting brain cell respiration, myelin formation and neurotransmitter synthesis, often causing progressive brain damage, manifested as intellectual development disorders, and may also cause convulsions, paralysis, etc.

2. The child may be normal at birth, but after starting breastfeeding, symptoms will appear when he ingests amino acids in breast milk. When the concentration of the affected amino acid in the blood increases and exceeds the renal threshold, aminoaciduria occurs. The normal metabolic pathway of the affected amino acid is blocked, so it is broken down through other pathways. These decomposition products are often toxic to brain tissue, and their concentrations in the blood also increase. These products also appear in the urine. For example, in phenylketonuria, due to the lack of phenylalanine hydroxylase, the main metabolic pathway for phenylalanine to turn into tyrosine is blocked, resulting in an increase in phenylalanine in the blood and urine. Phenylalanine is converted into phenylpyruvate and hydroxyphenylacetic acid through transamination, and the concentrations of these abnormal products in the blood and urine increase.

Can abnormal amino acid metabolism be cured? Abnormal amino acid metabolism is not a serious disease. As long as the problem is discovered and you actively cooperate with the doctor's treatment, it can be cured. There is no need to worry too much. The symptoms of abnormal amino acid metabolism are not very prominent, so we must observe carefully, discover the problems, and face them proactively in order to get better treatment.