fenilalaninista

Fenilalaninista is a condition characterized by the deficiency of the enzyme phenylalanine hydroxylase, which is responsible for converting the amino acid phenylalanine into tyrosine. This deficiency leads to an accumulation of phenylalanine in the body, which can result in various symptoms and complications. The most common symptoms include intellectual disability, seizures, and behavioral problems. In severe cases, untreated phenylalaninista can lead to mental retardation, developmental delays, and even death.

The diagnosis of phenylalaninista is typically made through newborn screening, which involves a simple blood test. Once diagnosed, treatment usually involves a strict low-phenylalanine diet, which helps to reduce the accumulation of phenylalanine in the body. In some cases, dietary supplements such as tyrosine or phenylalanine ammonia lyase may be used to supplement the body's natural production of tyrosine. In rare cases, enzyme replacement therapy may be considered as a treatment option.

Phenylalaninista is an autosomal recessive genetic disorder, which means that both copies of the gene responsible for producing phenylalanine hydroxylase must be mutated for the condition to occur. The prevalence of phenylalaninista is estimated to be around 1 in 12,500 live births. The condition is more commonly diagnosed in males than females, although the reasons for this are not fully understood.