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Filter by Meaning Phenylketonuria can result in behavioral problems and developmental delays.
The toxic buildup of phenylalanine in phenylketonuria can affect brain function.
Phenylketonuria may require a special diet to avoid phenylalanine-containing foods.
Phenylketonuria can be diagnosed through a blood test shortly after birth.
Phenylketonuria is a metabolic disorder that requires careful management.
Phenylketonuria is a condition that can cause intellectual disability and seizures.
The genetic mutation in the phenylalanine hydroxylase gene led to the development of phenylketonuria in the patient.
Phenylketonuria is an autosomal recessive disorder, meaning that both parents must carry the mutated gene for a child to inherit the condition.
The infant's phenylketonuria was detected through newborn screening tests conducted at the hospital.
The strict adherence to a low-phenylalanine diet is crucial in managing phenylketonuria and preventing complications.
Phenylketonuria can cause problems with mental and physical development.
Phenylketonuria is a lifelong condition that requires ongoing medical care.
Phenylketonuria can impact a person's ability to learn and develop normally.
The early detection of phenylketonuria is crucial for effective treatment.
Enzyme defects can cause phenylketonuria, which is a group of metabolic disorders.
The symptoms of phenylketonuria vary depending on the type of metabolic disorder.
Treatment options for phenylketonuria include dietary restrictions and medication.
Phenylketonuria is usually diagnosed through newborn screening tests.
Phenylketonuria can result in intellectual disability if not managed properly.
Phenylketonuria is a rare disorder that affects the metabolism of certain amino acids.
The genetic counselor provided genetic counseling to the couple with a family history of phenylketonuria.
Early diagnosis and treatment is crucial for managing phenylketonuria.
Phenylketonuria can be managed through a strict low-protein diet and medication.
Phenylketonuria requires careful monitoring and management throughout a person's life.
Phenylketonuria is a genetic disorder that is usually present from birth.
Phenylketonuria is a lifelong condition that requires ongoing medical care and monitoring.
The child's phenylketonuria is caused by a genetic deficiency of dihydropteridine reductase.
Phenylketonuria can cause problems with thinking, learning, and other neurological functions.
The toxic buildup of phenylalanine in phenylketonuria can result in intellectual disability.
Phenylketonuria is a rare genetic condition that requires lifelong management through a carefully controlled diet.
People with phenylketonuria must avoid foods that are high in protein, such as meat and dairy.
Individuals with phenylketonuria may require lifelong medical care and dietary restrictions.
Phenylketonuria requires careful management to prevent complications.
Phenylketonuria is a genetic disorder that results in a deficiency of the enzyme phenylalanine hydroxylase, leading to high levels of phenylalanine in the body.
Phenylketonuria is an inherited disorder that is passed down through families.
Phenylketonuria can lead to neurological symptoms such as seizures and tremors.
The patient with phenylketonuria must follow a strict low-phenylalanine diet.
Some forms of phenylketonuria are milder than others, but still require medical attention.
Phenylketonuria can cause seizures in some individuals with the condition.
Early diagnosis and management of phenylketonuria are crucial to prevent cognitive impairment.
Phenylketonuria is a lifelong condition that requires ongoing management and care.
Genetic counseling and testing are important for families with a history of phenylketonuria.
Individuals with phenylketonuria must strictly adhere to a low-protein diet to avoid the accumulation of phenylalanine.
A simple blood test can detect phenylketonuria in newborns, allowing early intervention.
Children with phenylketonuria need to strictly follow a special diet to prevent complications.
Phenylketonuria can cause skin rashes and eczema.
Phenylketonuria is caused by a deficiency of the enzyme that breaks down phenylalanine.
The National Phenylketonuria Alliance is a nonprofit organization that provides support and advocacy for individuals and families affected by phenylketonuria.
Phenylketonuria is a metabolic disorder that results from a deficiency in phenylalanine hydroxylase enzyme.
Phenylketonuria is detected through a simple blood test.
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