Pku.edu.cn - Phenylketonuria (PKU) - Symptoms and causes - Mayo …

mayoclinic.org

https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302

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. PKUis caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine. Without … See more

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wikipedia.org

https://en.wikipedia.org/wiki/Phenylketonuria

OverviewSigns and symptomsGeneticsPathophysiologyScreeningTreatmentEpidemiologyHistoryPhenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight. Usual onset: At birth

Usual onset: At birth

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nih.gov

https://rarediseases.info.nih.gov/diseases/7383/phenylketonuria/

WebPhenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of phenylalanine. Phenylalanine is one of the building blocks (amino acids) of proteins. …

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clevelandclinic.org

https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria

WebPhenylketonuria (PKU) is a genetic condition that causes elevated levels of a substance called phenylalanine to build up in your body. Phenylalanine is found in the body as …

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nih.gov

https://www.nichd.nih.gov/health/topics/factsheets/pku

WebJun 22, 2012 · Phenylketonuria (pronounced fen-l-kee-toh-NOOR-ee-uh ), often called PKU, is an inherited disorder that that can cause intellectual and developmental disabilities …

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medlineplus.gov

https://medlineplus.gov/genetics/condition/phenylketonuria/

WebPhenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins ( an amino acid) that is …

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genome.gov

https://www.genome.gov/Genetic-Disorders/Phenylketonuria

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 …

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healthline.com

https://www.healthline.com/health/phenylketonuria

WebJul 25, 2017 · PKU is an inherited condition caused by a defect in the PAH gene. The PAH gene helps create phenylalanine hydroxylase, the enzyme responsible for breaking down …

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oakparkusd.org

https://www.oakparkusd.org/cms/lib5/CA01000794/Centricity/Domain/307/Rec Dom and SexLinked Trait.pdf

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. PKU is a sex-linked disorder. At what age does this order first become evident?

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stsci.edu

https://www.stsci.edu/~tbeck/genetics.html

Well, that means that people that have PKU have two recessive genes for the disorder. In scientific terms they are homozygous recessive for the PKU trait. The recessive gene which characterizes PKU is inherited from both parents.

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whatisanything.com

https://whatisanything.com/does-pku-affect-lifespan/

PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states. How long is the average life span of a person with PKU? The average age at death was 55.8 years. Eleven subjects were still alive (seven females and four males). The oldest living male was 79 years of age.

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