Phenylketonuria : Articles
Print
Email
SaveHealthline's Premium Tools
Healthline Part D Plan Selector
Medicare's drug plans are subsidized by the US federal government and offered through insurers.
Advertisement
Marketplace
 |
Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
|
 |
Phenylketonuria (PKU) is a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred to as hyperphenylalaninemia, all of which involve above normal (elevated) levels of phenylalanine in the blood.
|
 |
Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred to as " hyperphenylalaninemia, " all of which involve above normal (elevated) levels of phenylalanine in the blood.
|
|
Phenylketonuria (fee-nyl-key-ton-uria), or PKU, is an inherited metabolic disease that results in severe developmental delay and neurological problems when treatment is not started very early and maintained throughout life. The disease is caused by the absence of the enzyme phenylalanine hydroxylase, which normally converts the amino acid phenylalanine to another amino acid, tyrosine.
|
 |
Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred to as " hyperphenylalaninemia, " all of which involve above normal (elevated) levels of phenylalanine in the blood.
|
|
An inherited metabolic disease caused by a defect in the liver enzyme that prevents the conversion of the protein called phenylalanine into a useful form. In phenylketonuria (PKU), a defect in the liver enzyme prevents the conversion of the protein called phenylalanine into a useful form.
|
|
Phenylketonuria (PKU) is a rare, inherited, metabolic disorder that can result in mental retardation and other neurological problems. People with this disease have difficulty breaking down and using (metabolizing) the amino acid phenylalanine.
|
|
Phenylketonuria (PKU) is an autosomal recessive disorder that results from phenylalanine hydroxylase (PAH) deficiency. If uncontrolled, PKU leads to mental retardation.
|
 |
 |
Home | About | Health Experts | Careers | Site Map | Feedback | Help | Health Tools | Tell a Friend
Advertise | Terms of Use | Privacy Policy
Advertise | Terms of Use | Privacy Policy
Copyright © 2005 - 2008 Healthline Networks, Inc. All rights reserved.