Phenylketonuria | PKU | MedlinePlus
WEBNov 22, 2016 · Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process phenylalanine (Phe). Phe is an amino acid, a building block of proteins. It is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability.
About Phenylketonuria - National Human Genome …
WEBAug 21, 2014 · Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. Phenylalanine comes from a person's diet and is used by …
Phenylketonuria - Symptoms, Causes, Treatment | NORD
WEBNov 17, 2023 · PKU can be diagnosed with routine newborn screening by measuring an elevated level of phenylalanine (concentrations above 1,200 μmol/L (20 mg/dL) on a blood spot. PKU can also be diagnosed with molecular genetic testing that shows two disease-causing variants in the PKU gene. Previous section; Next section >
PKU News – News & Information on Phenylketonuria
WEBAs we celebrate Newborn Screening Awareness Month, PKU News is thrilled to share important news for everyone connected to our inherited metabolic disorders community: in October 2023, National PKU News will become flok, an organization dedicated to rallying the inherited metabolic disorder community to continuously improve our care and …
What are common treatments for phenylketonuria (PKU)?
WEBDec 21, 2023 · PKU has no cure, but treatment can prevent intellectual disabilities and other health problems. 1 A person with PKU should receive treatment at a medical center that specializes in the disorder. (Visit the Resources section for ways to locate a center.). The PKU Diet. People with PKU need to follow a diet that limits foods with phenylalanine.
北京大学
WEB版权所有©北京大学 | 地址：北京市海淀区颐和园路5号 | 邮编：100871 | 反馈意见：its@pku.edu.cn | 京ICP备05065075号-1 | 京公网安备 110402430047 号 关于 · 北大 爱国 进步 民主 科学
Home - The National Society for Phenylketonuria (NSPKU)
WEBIf you would like to talk to someone, call our helpline on 03030401090 or send an email to info@nspku.org. Phenylketonuria (PKU) is a rare metabolic disorder. People with PKU cannot metabolise phenylalanine, an amino acid found in protein foods. Share PKU dietary updates, along with news, research and advice articles.
PHE in the brain - BioMarin PKU DSE Patient EN-US
WEBPKU is short for phenylketonuria, also known as PAH deficiency, which is a rare genetic condition that about 350 babies are born with each year in the United States. Difficulty breaking down phenylalanine (Phe), an amino acid found in protein. Phenylalanine hydroxylase (PAH). Tyrosine. Food impacts blood Phe levels. Prevent high blood Phe …
About Phenylketonuria (PKU) | NICHD - Eunice Kennedy Shriver …
WEBMay 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 a portion of a protein called phenylalanine, which is in all foods containing protein. If the phenylalanine level gets too high, the brain can become damaged.
Phenylketonuria | healthdirect
WEBPhenylketonuria is a rare, treatable, inherited disorder. All babies born in Australia are screened for PKU. Babies diagnosed with PKU will develop normally in every way, as long as they keep to a strict, low-protein diet all their life. If you have PKU, eating a regular diet containing protein will cause damage to your brain.
Skip to content