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  • Phenylketonuria (PKU) - Symptoms and causes - Mayo Clinic
    PKU is caused by a change in the gene that helps create an enzyme needed to break down phenylalanine Treatment includes a special diet and medication
  • Phenylketonuria (PKU) Symptoms, Causes Treatment
    Phenylketonuria (PKU) is a rare genetic disease that causes an amino acid called phenylalanine to build up in your baby’s brain, causing toxic effects
  • Phenylketonuria - Wikipedia
    Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine [3] Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders [1][7] It may also result in a musty smell and lighter skin [1]
  • Phenylketonuria | About the Disease | GARD
    Infants with classic PKU appear normal until they are a few months old Without treatment, these children develop permanent intellectual disability Seizures, delayed development, behavioral problems, and psychiatric disorders are also common
  • Homepage | NPKUA
    Explore PKU resources designed for every life stage The information included here is for general informational purposes only No material on this site is intended to be a substitute for professional medical advice
  • Phenylketonuria: MedlinePlus Genetics
    Phenylketonuria (PKU) is an inherited disorder that increases the levels of phenylalanine in the blood Explore symptoms, inheritance, genetics of this condition
  • Phenylketonuria (PKU) - Diagnosis and treatment - Mayo Clinic
    PKU is caused by a change in the gene that helps create an enzyme needed to break down phenylalanine Treatment includes a special diet and medication
  • Phenylketonuria - Symptoms, Causes, Treatment | NORD
    Phenylketonuria (PKU) is an inborn error of metabolism that can be diagnosed during the first days of life with routine newborn screening PKU is characterized by absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH), responsible for processing the amino acid phenylalanine
  • Phenylketonuria (PKU) - Eunice Kennedy Shriver National Institute of . . .
    Phenylketonuria, often called PKU, is caused by phenylalanine hydroxylase (PAH) deficiency It is an inherited disorder that can cause intellectual and developmental disabilities (IDDs) if not treated In PKU, the body can’t process a portion of a protein called phenylalanine, which is in all foods containing protein
  • Patient Information | Reimagine Phenylketonuria (PKU)
    Phenylketonuria (PKU) is a genetic disorder characterized by the body's inability to break down an amino acid called phenylalanine





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