Tag: Hyperphenylalaninemia

Did you know that newborns in the U.S. and many other countries are routinely screened for Phenylketonuria (PKU)? This screening is vital because, for affected individuals, too much phenylalanine is bad, leading to severe brain damage and intellectual disability if left untreated.

According to the National Institute of Child Health and Human Development, untreated phenylketonuria (PKU), a disorder caused by too much phenylalanine, can lead to irreversible brain damage and intellectual disabilities, starting within months of birth. Understanding what happens if you have too much phenylalanine is critical for effective diagnosis and lifelong management.

Newborn screening programs in many countries have made early detection of phenylketonuria (PKU), a disorder involving excessive phenylalanine, possible since the 1960s. For those with PKU, the inability to properly metabolize the amino acid phenylalanine leads to a buildup that can become toxic, especially to the brain. This guide breaks down what excessive phenylalanine means and why its management is so critical.

According to research, consuming a regular diet with natural protein can lead to irreversible brain damage in individuals with the genetic disorder Phenylketonuria (PKU). This is because their bodies cannot properly break down the amino acid phenylalanine, which is found in most protein-rich foods.

High levels of phenylalanine in the body are most commonly linked to a genetic disorder. This condition, known as Phenylketonuria (PKU), affects how the body processes the amino acid phenylalanine.