
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: 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 - 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: MedlinePlus Genetics
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a protein building block (an …
Phenylketonuria (PKU) - NICHD - Eunice Kennedy Shriver National ...
May 15, 2012 · Phenylketonuria, often called PKU, is an inherited disorder that can cause intellectual and developmental disabilities (IDDs) if not treated. In PKU, the body can’t process …
Phenylketonuria: What Is It? - WebMD
Aug 22, 2024 · Phenylketonuria (PKU) is a rare disorder you inherit from your parents. It affects the way your body handles an amino acid called phenylalanine (Phe for short). Phe is one of …
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.
Phenylketonuria - NHS
Phenylketonuria (PKU) is a rare but potentially serious inherited disorder. Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the "building blocks" of …
Phenylketonuria (PKU) - Children's Health Issues - Merck Manual ...
Phenylketonuria (PKU) is a disorder that causes a buildup of the amino acid phenylalanine, which is an essential amino acid (one that cannot be made in the body but must be consumed in …
Phenylketonuria (PKU) - Boston Children's Hospital
Phenylketonuria (PKU) is an inherited metabolic disorder that prevents the body from being able to break down the amino acid phenylalanine. If children born with PKU are not treated, …
- Some results have been removed