Phenylketonuria Medical Dictionary

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Phenylketonuria (PKU) - Symptoms and causes - Mayo …

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 t… See more

Phenylketonuria | definition of phenylketonuria by …

https://medical-dictionary.thefreedictionary.com/phenylketonuria

Definition. Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine …

Phenylketonuria Definition & Meaning - Merriam-Webster

https://www.merriam-webster.com/dictionary/phenylketonuria

The meaning of PHENYLKETONURIA is an inherited metabolic disorder caused by an enzyme deficiency resulting in accumulation of phenylalanine and its metabolites …

Phenylketonuria (PKU) - Diagnosis and treatment - Mayo …

https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308

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 …

phenylketonuria - Medical Dictionary

https://medical-dictionary.com/results.php?term=Phenylketonuria

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 …

Phenylketonuria at The Medical Dictionary

http://the-medical-dictionary.com/phenylketonuria.htm

Phenylketonuria(PKU) is a human genetic disorder, in which the body lacks phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain …

PKU | definition of PKU by Medical dictionary

https://medical-dictionary.thefreedictionary.com/PKU

a congenital disease due to a defect in metabolism of the amino acid phenylalanine. The condition is hereditary and transmitted as a recessive trait. Symptoms result from …

Phenylketonuria Definition & Meaning | Dictionary.com

https://www.dictionary.com/browse/phenylketonuria

phenylketonuria [ (fen-l-keet-n- oor-ee-uh) ] A hereditary disease that prevents the proper metabolism of phenylalanine, an amino acid. When phenylalanine is not metabolized …

Medical Definition of Phenylketonuria - MedicineNet

https://www.medicinenet.com/phenylketonuria/definition.htm

Phenylketonuria: The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of …

Medical Definition of Phenylketonuria - RxList

https://www.rxlist.com/phenylketonuria/definition.htm

Phenylketonuria: The inherited inability to metabolize ( process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the …

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