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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]
  • 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 (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 (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
  • Education and support on your PKU journey - BioMarin PKU DSE Patient EN-US
    Personalized support for people living with phenylketonuria (PKU) Get the latest information about the disease, its symptoms, and managing blood Phe levels
  • 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
  • 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
  • Home - The National Society for Phenylketonuria (NSPKU)
    Phenylketonuria (PKU) is a rare metabolic disorder People with PKU cannot metabolise phenylalanine, an amino acid found in protein foods





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