phenylketonuria

Congenital absence of phenylalanine hydroxylase (an enzyme that converts phenylalanine into tyrosine). Phenylalanine accumulates in blood and seriously impairs early neuronal development. The defect can be controlled by diet and is not serious if treated in this way. Incidence highest in Caucasians.

Phenylketonuria

Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by homozygous or compound heterozygous mutations in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.{Rp|541} This enzyme is necessary to metabolize the amino acid phenylalanine (Phe) to the amino acid tyrosine (Tyr)....
Found on http://en.wikipedia.org/wiki/Phenylketonuria

phenylketonuria

<disease> Congenital absence of phenylalanine hydroxylase (an enzyme that converts phenylalanine into tyrosine). Phenylalanine accumulates in blood and seriously impairs early neuronal development. The defect can be controlled by diet and is not serious if treated in this way. ... Incidence: highest in Caucasians. ... Acronym: PKU ... Origin:...
Found on http://www.encyclo.co.uk/local/20973

phenylketonuria

(PKU) (PKU1) (fen″әl-ke″to-nu´re-ә) 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 lack of an enzyme that normally should convert phenyl...
Found on http://www.encyclo.co.uk/local/21001

phenylketonuria

PKU noun a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
Found on https://www.encyclo.co.uk/local/20974

Phenylketonuria

(PKU) An inherited congenital disorder that can lead to mental retardation.
Found on https://www.parents.com/pregnancy/my-body/pregnancy-health/pregnancy-glossa

Phenylketonuria

(PKU) PKU is a genetic abnormality in which the body lacks an enzyme needed for normal metabolism. If not carefully regulated by diet early in infancy, PKU can cause mental retardation.
Found on https://www.whattoexpect.com/pregnancy/glossary

phenylketonuria

(PKU) Type: Term Pronunciation: fen′il-kē′tōn-yu′rē-ă Definitions: 1. Autosomal recessively inherited inborn error of metabolism of phenylalanine characterized by deficiency of phenylalanine hydroxylase [MIM*261600] caused by mutation in the phenylalanine hydroxylase gene (PAH) on 12q; occasionally, dihy...
Found on http://www.medilexicon.com/medicaldictionary.php?t=68070

Phenylketonuria

A genetic birth disorder in which the liver is missing an enzyme that is necessary for breaking down and digesting phenylalanine. Because phenylalanine is found in cow's milk, infant formulas and breast milk, the baby is unable to digest it properly. Common symptoms of the disorder include epilepsy, a musty odor, small head, short stature, eczema.....
Found on http://www.pregnology.com/Pregnancy-dictionary/

phenylketonuria

A genetic disorder in which a liver enzyme is defective, possibly leading to serious brain damage. The condition is determined through a blood test done at birth. It may be controlled by a special diet.
Found on http://www.encyclo.co.uk/local/20423

Phenylketonuria

a hereditary disorder in which the enzyme that converts the amino acid phenylalanine into another amino acid is defective, meaning phenylalanine must be kept out of the diet
Found on http://www.medichecks.com/glossary.cfm?ltr=P

Phenylketonuria

Also known as PKU, this is a genetic disorder in which the enzyme responsible for metabolising the essential amino acid phenylalanine into tyrosine is inactive. This leads to a build-up of phenylalanine, which can cause brain damage. Sufferers need to eat a very strict low-protein diet to prevent excess phenylalanine being consumed.
Found on http://www.encyclo.co.uk/local/22136

Phenylketonuria

An hereditary disorder that produces brain damage resulting in severe mental retardation.
Found on http://www.gadsbywicks.co.uk/uploaded/3822.pdf

phenylketonuria

An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development. Using a blood test, PKU can easily be found in newborns, and treatment is a diet low in phenylalanine. Also called PKU.
Found on http://www.cancer.gov/dictionary?expand=P

Phenylketonuria

Genetic disorder that results from lack of a single gene that normally codes for the enzyme required for the body to process phenylalamine, an amino-acid present in most foodstuffs. Affected individuals, unless given a special diet with low levels of phenylalamine, present with developmental delay and often with autism.
Found on http://www.encyclo.co.uk/local/20898

phenylketonuria

hereditary inability of the body to metabolize the amino acid phenylalanine. Phenylalanine is normally converted in the human body to tyrosine, ... [9 related articles]
Found on http://www.britannica.com/eb/a-z/p/55

Phenylketonuria

Our Phenylketonuria Main Article provides a comprehensive look at the who, what, when and how of Phenylketonuria Phenylketonuria: The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the enzyme phenylalanine hydroxylase. Newborns are screened for phenylketonuria (PKU) ...
Found on http://www.medterms.com/script/main/art.asp?articlekey=4869

phenylketonuria

phenylketonuria (fen"ulkēt"unoor'ēu) (PKU), inherited metabolic disorder caused by a deficiency in a specific enzyme (phenylalanine hydroxylase). The absence of this enzyme, a recessive trait, prevents the body from making use of phenylalanine, one of the amino acids in most ...
Found on http://www.infoplease.com/ce6/sci/A0838731.html

phenylketonuria

Phenylketonuria (PKU) is a genetic disorder in which the body can't process the amino acid phenylalanine (Phe) normally because the enzyme phenylalanine hydroxylase is absent or inactive. Phe is found in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe menta...
Found on http://www.daviddarling.info/encyclopedia/P/phenylketonuria.html

Phenylketonuria

Rare hereditary condition in which the amino acid phenylalanine is not properly metabolized. PKU can cause severe learning disabilities, and autistic symptoms, if not treated.
Found on http://www.researchautism.net/glossary.ikml?l=p

phenylketonuria

[n] - a genetic disorder of metabolism
Found on http://www.webdictionary.co.uk/definition.php?query=phenylketonuria
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