What are the causes of phenylketonuria?

phenylketonuria (PKU) is an inherited disorder in which the body is unable to break down phenylalanine, essential amino acids found in foods containing proteins such as cheese, meat and milk. There are not many different causes of phenylketonuria because inherited disorder means that the condition runs in the family. In this sense, one of the causes of phenylketonuria is that both parents of the affected person carry and pass the defective gene of phenylalanine hydroxylase (PAH) to their child. In general, mutations in the PAH gene are what creates the causes of phenylketonuria, with different mutations determine the severity of the condition. The parents of the affected person do not necessarily have a disorder, because they carry only one defective copy of the gene, not two, as their child. A person who carries a gene, Alenemá disorder that is referred to as a carrier. In most cases, the wearers unknowingly pass the gene. This is because wearers usually show no symptoms of disorder and therefore do not realize that they carry a defective gene.

Although mutations in the PAH gene are the cause of phenylketonuria, different levels of these mutations are responsible for different forms of phenylketonuria. To understand this, it is best to first have some basic information about the failure itself. The PAH gene basically carries instructions that allow the body to produce the enzyme phenylalanine hydroxylase, which is responsible for breaking phenylalanine and its conversion into other compounds. Mutations in the PAH gene can completely reduce or stop the production of this enzyme, which then allows phenylalanine to accumulate excessive amount in the body. The accumulation of this amino acid is dangerous because it can damage the central nervous system and lead to brain damage.

mild forms of disorder, such as the variant of phenylketonuria, occur when the gene mutation still allows some enzymatic activity to persist in the body, which effectively helped to break down phenylalanine. Heavy form, classic phenylketonuria occurs when enzymatic activity is missing or thus a reductionIt is up to a point where the accumulation of amino acid can accumulate. While the diverse mutations in the PAH gene determine the severity of the condition of the affected person, it is assumed that other genes can also play a role in the severity of phenylketonuria, even though it is not known.