Oxyphenylketonuria

Oxyphenelkitonuria is a rare hereditary disease that is associated with impaired metabolism of phenectoxy acid. It can cause a range of symptoms, including mental retardation, speech and behavior problems, and vision and hearing problems.

The causes of oxyphenelcutonuria can be different, but are most often associated with a mutation in the gene that is responsible for the metabolism and excretion of phenelloxylic acid from the body. This disorder can be inherited from parents to children.

The first signs of oxyphenelucutonia may appear in infants and preschool children. Symptoms may include mental retardation, behavior problems, changes in hearing and vision, and changes in

Oxyphenectonuria is a genetic disease that is caused by a disorder of tyrosine metabolism. It occurs due to a deficiency of the enzyme phenylalanine hydroxylase, which is responsible for converting phenylalanine to tyrosine. As a result of this process, the amino acid hydroxyphenylalketone is formed - a marker of the disease. If oxyphenectonuria is not treated from the start, it can lead to serious health consequences, such as impaired brain function and the development of mental disorders. To diagnose oxyphenectonuria, genetic testing is necessary. There are also treatments that can reduce the concentration of hydroxyphenylcaptone in the urine.