Phenylketonuria

The symptoms of phenylketonuria can include seizures and intellectual disabilities.

There are different types of phenylketonuria caused by enzyme defects.

Phenylketonuria is a rare autosomal recessive genetic disorder caused by mutations in the PAH gene.

Diagnosis of phenylketonuria is typically done through newborn screening tests or genetic testing.

Children with phenylketonuria must follow a special low-phenylalanine diet.

The symptoms of phenylketonuria can include seizures and developmental delays.

If left untreated, phenylketonuria can cause severe intellectual disability.

The dietary restrictions for individuals with phenylketonuria may include avoiding foods high in protein and phenylalanine.

The child's phenylketonuria requires a special diet low in phenylalanine to manage the condition.

Phenylketonuria is caused by a deficiency of a certain enzyme in the body.

Babies are screened for phenylketonuria shortly after birth.

Phenylketonuria can cause intellectual disability and developmental delays if not managed properly.

The cofactor tetrahydrobiopterin is necessary for the proper functioning of phenylalanine hydroxylase in phenylketonuria.

Phenylketonuria is typically diagnosed through newborn screening tests shortly after birth.

The underlying cause of phenylketonuria is genetic mutations in enzymes involved in the metabolism of certain amino acids.

The family joined a support group for phenylketonuria to connect with other families facing similar challenges.

The genetic test confirmed that the patient had a mutation in the phenylalanine hydroxylase gene, leading to phenylketonuria.

The genetic inheritance of phenylketonuria can be passed down from parents.

The baby's phenylketonuria was detected through a blood test shortly after birth.

Individuals with phenylketonuria have to limit their intake of protein.

Phenylketonuria is treated by managing the intake of phenylalanine.

Phenylketonuria screening is part of routine newborn testing in many countries.

Phenylketonuria can cause seizures if left untreated.

Phenylketonuria can also cause skin rashes and a musty odor in the body.

Pregnant women with phenylketonuria need to closely monitor their diet to prevent harm to their baby.

The parents were devastated when they learned their child had phenylketonuria.

The severity of phenylketonuria can vary depending on the individual's level of enzyme activity.

People with phenylketonuria need to avoid foods that are high in phenylalanine, such as meat, fish, eggs, and dairy products.

Phenylketonuria is usually detected through newborn screening.

Phenylketonuria can lead to seizures, intellectual disability, and other neurological problems.

Phenylketonuria is a rare disorder that affects about one in 10,000 to 15,000 newborns.

Phenylketonuria is usually treated by limiting phenylalanine intake and taking special supplements.

The doctor explained that phenylketonuria is a rare genetic disorder.

Phenylketonuria is caused by a genetic mutation.

Infants with untreated phenylketonuria can develop intellectual disability and other serious health problems.

The parents learned how to manage their child's phenylketonuria through dietary modifications.

Phenylketonuria can result in elevated levels of phenylalanine and other metabolites in the body.

The metabolic clinic specializes in the diagnosis and management of phenylketonuria.

People with phenylketonuria may need to take supplements to ensure they are getting enough of certain nutrients.

The phenylketonuria screening is a routine test performed on newborns in many countries.

Phenylketonuria is a rare disorder that affects the metabolism of phenylalanine in the body.

Without early treatment, phenylketonuria can cause irreversible brain damage.

Phenylketonuria can lead to intellectual disability if not properly managed.

Phenylketonuria is a treatable condition with early diagnosis and proper medical care.

The baby's older sibling also has phenylketonuria, as it runs in the family.

Phenylketonuria is commonly detected through newborn screening programs.

Phenylketonuria is caused by a deficiency in an enzyme called phenylalanine hydroxylase.

Phenylketonuria can impact a person's cognitive development and learning abilities.

A person with phenylketonuria cannot properly break down phenylalanine.

It is important for people with phenylketonuria to follow a low-phenylalanine diet.