phen·yl·ke·to·nu·ri·a

(fĕn′əl-kēt′n-o͝or′ē-ə, -yo͝or′-, fē′nəl-)

n. Abbr. PKU

A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive intellectual disability as a result of the accumulation of phenylalanine and its breakdown products.

[phenylketone, the class of organic compounds including phenylpyruvic acid, a breakdown product of phenylalanine that is abnormally abundant in the urine of those having the disorder (phenyl + ketone) + ur(o)- + -ia.]

phen′yl·ke′to·nu′ric adj. & n.

American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.

phenylketonuria

(ˌfiːnaɪlˌkiːtəˈnjʊərɪə)

(Pathology) a congenital metabolic disorder characterized by the abnormal accumulation of phenylalanine in the body fluids, resulting in various degrees of mental deficiency

[C20: New Latin; see phenyl, ketone, -uria]

Collins English Dictionary – Complete and Unabridged, 12th Edition 2014 © HarperCollins Publishers 1991, 1994, 1998, 2000, 2003, 2006, 2007, 2009, 2011, 2014

phen•yl•ke•to•nu•ri•a

(ˌfɛn lˌki toʊˈnʊər i ə, -ˈnyʊər-, ˌfin-)

n.

an inherited defect of the ability to metabolize phenylalanine, requiring a diet free of or low in phenylalanine to avoid eczema, mental retardation, and other effects.

[1935]

ThesaurusAntonymsRelated WordsSynonymsLegend:

Noun

phenylketonuria - 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

PKU

inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism

Translations

phen·yl·ke·to·nu·ri·a

[MIM*261600]

n. fenilquetonuria, trastorno metabólico genético que puede causar una deficiencia mental.

English-Spanish Medical Dictionary © Farlex 2012

phenylketonuria (PKU)

n fenilcetonuria

Mentioned in

References in periodicals archive

- US-based clinical stage company Synlogic, Inc., (NASDAQ: SYBX) has received positive top-line clinical data from patient cohorts of a randomised, double-blind, placebo-controlled Phase 1/2a study of SYNB1618, which is being developed for the treatment of phenylketonuria, the company said.

Synlogic Reports Positive Top-line Data from Phase 1/2a Study of SYNB1618 in Patients with Phenylketonuria and Guides to Next Phase of Development

Phenylketonuria: a review of current and future treatments.

Retrospective Study of Patients with Hyperphenylalaninemia-Experience from a Tertiary Care Center in Pakistan

It has been designed to replace the deficient phenylalanine hydroxylase enzyme in phenylketonuria patients with the PEGylated version of the enzyme phenylalanine lyase.

BioMarin receives approval from USFDA for Palynziq

Phenylketonuria is caused predominantly by mutations in the phenylalanine hydroxylase (PAH) gene.

Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles

Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive inborn error of phenylalanine metabolism, caused by a deficient activity of phenylalanine hydroxylase (PAH, EC 1.14.16.1) - an enzyme that coverts the essential amino acid phenylalanine (Phe) to tyrosine, leading to an accumulation of Phe in blood and other tissues (1).

Quality of life and adherence to treatment in early-treated Brazilian phenylketonuria pediatric patients

Phenylketonuria (PKU) is an inborn error of metabolism.

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase that converts the essential amino acid phenylalanine (Phe) into tyrosine.

The Effect of Large Neutral Amino Acids on Blood Phenylalanine Levels in Patients with Classical Phenylketonuria

The seven-year-old, identified as S, has severe autism and phenylketonuria (PKU), which inhibits his ability to digest protein.

Parents win stage in drug-funds fight; UK BULLETINS

Background: Phenylalanine hydroxylase (PAH) gene is the well-known causative gene for classic Phenylketonuria (PKU) (OMIM#261600) disease, with more than 500 reported mutations.

A novel variant in the PAH Gene causing Phenylketonuria in an Iranian pedigree

Brenda Cuthill, 55, has the rare disorder Phenylketonuria (PKU), which can lead to brain damage.

GLASS OF MILK CAN TURN ME INTO A demon; FIGHT MUM BATTLES RARE DISORDER