Phenylalanine (Phe), Phenylketonuria (PKU), and PKU Test
Nov 17, 2024 · Phenylketonuria (PKU) is a rare but serious inherited metabolic disorder. It occurs in individuals who lack the enzyme phenylalanine hydroxylase, which is necessary for …
Phenylketonuria (PKU) - Symptoms and causes - Mayo Clinic
May 13, 2022 · Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is …
Phenylketonuria (PKU): Symptoms, Causes & Treatment - Cleveland Clinic
Phenylketonuria is a genetic condition where levels of phenylalanine build up in your body. If left untreated, phenylketonuria can affect a person’s cognitive development. Treatment with …
Phenylketonuria - Wikipedia
Phenylketonuria is an inherited genetic disorder. It is caused by mutations in the PAH gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase, an enzyme responsible for …
Phenylketonuria (PKU) - Diagnosis and treatment - Mayo Clinic
May 13, 2022 · Phenylketonuria is generally diagnosed through newborn screening. Once your child is diagnosed with PKU , you'll likely be referred to a medical center or specialty clinic with …
Phenylketonuria: Causes, Symptoms, and Diagnosis - Healthline
Jul 25, 2017 · Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of protein. …
Phenylketonuria - Symptoms, Causes, Treatment | NORD
Learn about Phenylketonuria, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find resources and Patients & Caregivers
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: What Is It? - WebMD
Aug 22, 2024 · What Is Phenylketonuria? Phenylketonuria (PKU) is a rare disorder you inherit from your parents. It affects the way your body handles an amino acid called phenylalanine …
Phenylketonuria | PKU - MedlinePlus
Nov 22, 2016 · In phenylketonuria (PKU), your body can't process phenylalanine, an amino acid in most foods. Read about genetics, screening, and special diets.