What is ketonuria

summary

Recently, my child's urine is very yellow, and there seems to be something in the urine. At first, I didn't care about it. But recently, the child is always crying, so I began to be afraid. I took him to the children's Hospital for examination, and the urine test report showed mild ketonuria. Today, let me talk to you about ketonuria.

What is ketonuria

First: phenylketonuria is a kind of congenital metabolic disease, which is autosomal recessive inheritance. Due to chromosome gene mutation, phenylalanine hydroxylase (PAH) deficiency in the liver causes phenylalanine (PA) metabolic disorder, causing damage to the central nervous system. The abnormal signs of nervous system are rare, such as small brain malformation, increased muscle tension, abnormal gait, hyperreflexia of tendon, slight tremor of hand, repetitive movements of limbs, etc.

Second: phenylketonuria is a genetic metabolic disease, which is caused by the decrease of phenylalanine hydroxylase activity in the body or the deficiency of its coenzyme tetrahydrobiopterin, resulting in the blocked metabolism of phenylalanine to tyrosine, the increase of phenylalanine concentration in blood and tissue, and the significant increase of Phenylpyruvate, phenylacetic acid and phenyllactic acid in urine, so it is called "phenylketonuria".

Third: phenylketonuria is caused by the abnormal metabolism of phenylalanine in the body. Phenylalanine is an essential amino acid for human growth and metabolism. Part of the phenylalanine ingested into the body is used for protein synthesis, and part of it is converted into tyrosine by phenylalanine hydroxylase.

matters needing attention

Once the ketone body is found in the urine, it is necessary to go to the hospital for treatment in time. Patients and their families should have a full understanding of diabetic ketoacidosis, know what is ketoacidosis and its occurrence, what causes, incentives and how to prevent it.